CleftGeneDB-Search

Gene: GLG1

Basic information

Tag	Content
Uniprot ID	Q92896; B7Z8Y4; D3DUJ7; Q13221; Q6P9D1;
Entrez ID	2734
Genbank protein ID	BAH14120.1; AAB02178.1; AAB06460.1; EAW95682.1; EAW95683.1; AAH60822.1; EAW95686.1;
Genbank nucleotide ID	NM_001145666.1; NM_001145667.1; NM_012201.5;
Ensembl protein ID	ENSP00000405984; ENSP00000205061; ENSP00000406946;
Ensembl nucleotide ID	ENSG00000090863
Gene name	Golgi apparatus protein 1
Gene symbol	GLG1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Binds fibroblast growth factor and E-selectin (cell-adhesion lectin on endothelial cells mediating the binding of neutrophils).
Sequence	MAACGRVRRM FRLSAALHLL LLFAAGAEKL PGQGVHSQGQ GPGANFVSFV GQAGGGGPAG 60 QQLPQLPQSS QLQQQQQQQQ QQQQPQPPQP PFPAGGPPAR RGGAGAGGGW KLAEEESCRE 120 DVTRVCPKHT WSNNLAVLEC LQDVREPENE ISSDCNHLLW NYKLNLTTDP KFESVAREVC 180 KSTITEIKEC ADEPVGKGYM VSCLVDHRGN ITEYQCHQYI TKMTAIIFSD YRLICGFMDD 240 CKNDINILKC GSIRLGEKDA HSQGEVVSCL EKGLVKEAEE REPKIQVSEL CKKAILRVAE 300 LSSDDFHLDR HLYFACRDDR ERFCENTQAG EGRVYKCLFN HKFEESMSEK CREALTTRQK 360 LIAQDYKVSY SLAKSCKSDL KKYRCNVENL PRSREARLSY LLMCLESAVH RGRQVSSECQ 420 GEMLDYRRML MEDFSLSPEI ILSCRGEIEH HCSGLHRKGR TLHCLMKVVR GEKGNLGMNC 480 QQALQTLIQE TDPGADYRID RALNEACESV IQTACKHIRS GDPMILSCLM EHLYTEKMVE 540 DCEHRLLELQ YFISRDWKLD PVLYRKCQGD ASRLCHTHGW NETSEFMPQG AVFSCLYRHA 600 YRTEEQGRRL SRECRAEVQR ILHQRAMDVK LDPALQDKCL IDLGKWCSEK TETGQELECL 660 QDHLDDLVVE CRDIVGNLTE LESEDIQIEA LLMRACEPII QNFCHDVADN QIDSGDLMEC 720 LIQNKHQKDM NEKCAIGVTH FQLVQMKDFR FSYKFKMACK EDVLKLCPNI KKKVDVVICL 780 STTVRNDTLQ EAKEHRVSLK CRRQLRVEEL EMTEDIRLEP DLYEACKSDI KNFCSAVQYG 840 NAQIIECLKE NKKQLSTRCH QKVFKLQETE MMDPELDYTL MRVCKQMIKR FCPEADSKTM 900 LQCLKQNKNS ELMDPKCKQM ITKRQITQNT DYRLNPMLRK ACKADIPKFC HGILTKAKDD 960 SELEGQVISC LKLRYADQRL SSDCEDQIRI IIQESALDYR LDPQLQLHCS DEISSLCAEE 1020 AAAQEQTGQV EECLKVNLLK IKTELCKKEV LNMLKESKAD IFVDPVLHTA CALDIKHHCA 1080 AITPGRGRQM SCLMEALEDK RVRLQPECKK RLNDRIEMWS YAAKVAPADG FSDLAMQVMT 1140 SPSKNYILSV ISGSICILFL IGLMCGRITK RVTRELKDR 1179

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	GLG1	479654	F6V9R9		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	GLG1		A0A452E1L5		Capra hircus	Prediction	More>>
1:1 ortholog	GLG1		F6Z3Z4		Equus caballus	Prediction	More>>
1:1 ortholog	GLG1	2734	Q92896		Homo sapiens	Prediction	More>>
1:1 ortholog	Glg1	20340	Q61543	CPO	Mus musculus	Publication	More>>
1:1 ortholog	GLG1		A0A2I3TER7		Pan troglodytes	Prediction	More>>
1:1 ortholog	GLG1		G1SJQ2		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Glg1		G3V8G5		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs781349197	p.Ala2Gly	missense variant	-	NC_000016.10:g.74607090G>C	ExAC,TOPMed,gnomAD
rs781349197	p.Ala2Val	missense variant	-	NC_000016.10:g.74607090G>A	ExAC,TOPMed,gnomAD
rs752535549	p.Ala3Val	missense variant	-	NC_000016.10:g.74607087G>A	ExAC,TOPMed,gnomAD
rs1015474542	p.Ala3Pro	missense variant	-	NC_000016.10:g.74607088C>G	gnomAD
rs752535549	p.Ala3Gly	missense variant	-	NC_000016.10:g.74607087G>C	ExAC,TOPMed,gnomAD
rs371279250	p.Cys4Arg	missense variant	-	NC_000016.10:g.74607085A>G	ExAC,TOPMed,gnomAD
rs1269347677	p.Cys4Tyr	missense variant	-	NC_000016.10:g.74607084C>T	gnomAD
rs371279250	p.Cys4Gly	missense variant	-	NC_000016.10:g.74607085A>C	ExAC,TOPMed,gnomAD
rs760208774	p.Gly5Val	missense variant	-	NC_000016.10:g.74607081C>A	ExAC,gnomAD
rs1196932270	p.Arg6His	missense variant	-	NC_000016.10:g.74607078C>T	TOPMed,gnomAD
rs1257521637	p.Arg6Gly	missense variant	-	NC_000016.10:g.74607079G>C	gnomAD
rs1196932270	p.Arg6Leu	missense variant	-	NC_000016.10:g.74607078C>A	TOPMed,gnomAD
rs1257521637	p.Arg6Cys	missense variant	-	NC_000016.10:g.74607079G>A	gnomAD
rs767306994	p.Val7Leu	missense variant	-	NC_000016.10:g.74607076C>A	ExAC,gnomAD
rs767306994	p.Val7Ile	missense variant	-	NC_000016.10:g.74607076C>T	ExAC,gnomAD
rs1232965686	p.Val7Ala	missense variant	-	NC_000016.10:g.74607075A>G	TOPMed,gnomAD
rs567707138	p.Arg8Leu	missense variant	-	NC_000016.10:g.74607072C>A	ExAC,TOPMed,gnomAD
rs567707138	p.Arg8Pro	missense variant	-	NC_000016.10:g.74607072C>G	ExAC,TOPMed,gnomAD
rs567707138	p.Arg8Gln	missense variant	-	NC_000016.10:g.74607072C>T	ExAC,TOPMed,gnomAD
rs764483025	p.Arg8Gly	missense variant	-	NC_000016.10:g.74607073G>C	ExAC,TOPMed,gnomAD
rs764483025	p.Arg8Trp	missense variant	-	NC_000016.10:g.74607073G>A	ExAC,TOPMed,gnomAD
rs1448479743	p.Arg9Lys	missense variant	-	NC_000016.10:g.74607069C>T	gnomAD
rs745994442	p.Arg9Ser	missense variant	-	NC_000016.10:g.74607068C>G	ExAC,TOPMed,gnomAD
rs745994442	p.Arg9Ser	missense variant	-	NC_000016.10:g.74607068C>A	ExAC,TOPMed,gnomAD
rs769807372	p.Arg9Gly	missense variant	-	NC_000016.10:g.74607070T>C	ExAC,TOPMed,gnomAD
rs769807372	p.Arg9Trp	missense variant	-	NC_000016.10:g.74607070T>A	ExAC,TOPMed,gnomAD
rs1464344146	p.Met10Ile	missense variant	-	NC_000016.10:g.74607065C>A	TOPMed,gnomAD
rs771156802	p.Met10Leu	missense variant	-	NC_000016.10:g.74607067T>G	ExAC,TOPMed,gnomAD
rs771156802	p.Met10Leu	missense variant	-	NC_000016.10:g.74607067T>A	ExAC,TOPMed,gnomAD
rs771156802	p.Met10Val	missense variant	-	NC_000016.10:g.74607067T>C	ExAC,TOPMed,gnomAD
rs747168387	p.Phe11Leu	missense variant	-	NC_000016.10:g.74607062G>C	ExAC,TOPMed,gnomAD
rs1379159360	p.Phe11Cys	missense variant	-	NC_000016.10:g.74607063A>C	gnomAD
rs201128650	p.Arg12Cys	missense variant	-	NC_000016.10:g.74607061G>A	ESP,ExAC,TOPMed,gnomAD
rs1237601743	p.Arg12His	missense variant	-	NC_000016.10:g.74607060C>T	TOPMed,gnomAD
rs754788878	p.Leu13Phe	missense variant	-	NC_000016.10:g.74607056C>A	ExAC,gnomAD
rs368678359	p.Ser14Ala	missense variant	-	NC_000016.10:g.74607055A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780009268	p.Ser14Leu	missense variant	-	NC_000016.10:g.74607054G>A	ExAC,gnomAD
rs368678359	p.Ser14Pro	missense variant	-	NC_000016.10:g.74607055A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780009268	p.Ser14Leu	missense variant	-	NC_000016.10:g.74607054G>A	NCI-TCGA
rs755962866	p.Ala15Ser	missense variant	-	NC_000016.10:g.74607052C>A	ExAC,gnomAD
rs749972416	p.Ala15Val	missense variant	-	NC_000016.10:g.74607051G>A	ExAC,TOPMed,gnomAD
rs1448321282	p.His18Pro	missense variant	-	NC_000016.10:g.74607042T>G	gnomAD
rs1448321282	p.His18Arg	missense variant	-	NC_000016.10:g.74607042T>C	gnomAD
rs764418928	p.Ala24Thr	missense variant	-	NC_000016.10:g.74607025C>T	ExAC,gnomAD
rs763349183	p.Ala24Val	missense variant	-	NC_000016.10:g.74607024G>A	ExAC,TOPMed,gnomAD
rs1378384247	p.Ala25Val	missense variant	-	NC_000016.10:g.74607021G>A	gnomAD
rs1160448076	p.Gly26Arg	missense variant	-	NC_000016.10:g.74607019C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly26Val	missense variant	-	NC_000016.10:g.74607018C>A	NCI-TCGA
rs775681020	p.Ala27Val	missense variant	-	NC_000016.10:g.74607015G>A	ExAC,gnomAD
rs775681020	p.Ala27Asp	missense variant	-	NC_000016.10:g.74607015G>T	ExAC,gnomAD
rs1187029835	p.Glu28Lys	missense variant	-	NC_000016.10:g.74607013C>T	TOPMed,gnomAD
rs1187029835	p.Glu28Gln	missense variant	-	NC_000016.10:g.74607013C>G	TOPMed,gnomAD
rs776697550	p.Lys29Asn	missense variant	-	NC_000016.10:g.74607008T>A	ExAC,gnomAD
rs759904910	p.Lys29Thr	missense variant	-	NC_000016.10:g.74607009T>G	ExAC,TOPMed,gnomAD
rs759904910	p.Lys29Arg	missense variant	-	NC_000016.10:g.74607009T>C	ExAC,TOPMed,gnomAD
rs1040115753	p.Leu30His	missense variant	-	NC_000016.10:g.74607006A>T	TOPMed
rs1488195727	p.Pro31Arg	missense variant	-	NC_000016.10:g.74607003G>C	gnomAD
rs1226044065	p.Gly32Ala	missense variant	-	NC_000016.10:g.74607000C>G	gnomAD
rs1259480650	p.Gln33His	missense variant	-	NC_000016.10:g.74606996C>G	TOPMed
rs1350693111	p.Gly34Ser	missense variant	-	NC_000016.10:g.74606995C>T	gnomAD
rs1283115896	p.Val35Ala	missense variant	-	NC_000016.10:g.74606991A>G	gnomAD
rs749137740	p.His36Pro	missense variant	-	NC_000016.10:g.74606988T>G	ExAC,TOPMed,gnomAD
rs1199814593	p.His36Asp	missense variant	-	NC_000016.10:g.74606989G>C	TOPMed
rs1425362539	p.Ser37Gly	missense variant	-	NC_000016.10:g.74606986T>C	TOPMed
rs779662444	p.Ser37Thr	missense variant	-	NC_000016.10:g.74606985C>G	ExAC,TOPMed,gnomAD
rs868213459	p.Gly39Cys	missense variant	-	NC_000016.10:g.74606980C>A	gnomAD
rs868213459	p.Gly39Ser	missense variant	-	NC_000016.10:g.74606980C>T	gnomAD
rs1401235403	p.Pro42Leu	missense variant	-	NC_000016.10:g.74606970G>A	gnomAD
rs745729985	p.Ala44Val	missense variant	-	NC_000016.10:g.74606964G>A	ExAC,gnomAD
rs780912700	p.Asn45Lys	missense variant	-	NC_000016.10:g.74606960G>C	ExAC,gnomAD
rs751301270	p.Phe46Cys	missense variant	-	NC_000016.10:g.74606958A>C	ExAC,TOPMed,gnomAD
rs751301270	p.Phe46Tyr	missense variant	-	NC_000016.10:g.74606958A>T	ExAC,TOPMed,gnomAD
rs751301270	p.Phe46Ser	missense variant	-	NC_000016.10:g.74606958A>G	ExAC,TOPMed,gnomAD
rs1477697300	p.Ser48Tyr	missense variant	-	NC_000016.10:g.74606952G>T	gnomAD
rs760103653	p.Val50Ile	missense variant	-	NC_000016.10:g.74606947C>T	ExAC,TOPMed,gnomAD
rs760103653	p.Val50Leu	missense variant	-	NC_000016.10:g.74606947C>G	ExAC,TOPMed,gnomAD
rs1289839173	p.Gly51Val	missense variant	-	NC_000016.10:g.74606943C>A	gnomAD
rs1336381615	p.Gly54Arg	missense variant	-	NC_000016.10:g.74606935C>T	gnomAD
rs766494895	p.Gly55Asp	missense variant	-	NC_000016.10:g.74606931C>T	ExAC,TOPMed,gnomAD
rs1273416335	p.Gly55Arg	missense variant	-	NC_000016.10:g.74606932C>G	gnomAD
rs867111673	p.Gly56Arg	missense variant	-	NC_000016.10:g.74606929C>G	TOPMed,gnomAD
rs867111673	p.Gly56Cys	missense variant	-	NC_000016.10:g.74606929C>A	TOPMed,gnomAD
rs927522225	p.Gly57Ala	missense variant	-	NC_000016.10:g.74606925C>G	TOPMed
rs993441751	p.Pro58Leu	missense variant	-	NC_000016.10:g.74606922G>A	TOPMed,gnomAD
rs1396869664	p.Gly60Asp	missense variant	-	NC_000016.10:g.74606916C>T	TOPMed,gnomAD
rs1165842699	p.Gln62Lys	missense variant	-	NC_000016.10:g.74606911G>T	gnomAD
rs1465322193	p.Pro64Ser	missense variant	-	NC_000016.10:g.74606905G>A	gnomAD
rs1268189393	p.Gln65Arg	missense variant	-	NC_000016.10:g.74606901T>C	gnomAD
rs1188620150	p.Leu66Gln	missense variant	-	NC_000016.10:g.74606898A>T	gnomAD
rs1197575443	p.Pro67Arg	missense variant	-	NC_000016.10:g.74606895G>C	gnomAD
rs1475972942	p.Pro67Ser	missense variant	-	NC_000016.10:g.74606896G>A	TOPMed,gnomAD
rs761881073	p.Ser70Leu	missense variant	-	NC_000016.10:g.74606886G>A	ExAC,TOPMed,gnomAD
rs1197570248	p.Gln71Lys	missense variant	-	NC_000016.10:g.74606884G>T	gnomAD
rs1274731254	p.Leu72His	missense variant	-	NC_000016.10:g.74606880A>T	gnomAD
rs769468827	p.Gln76Lys	missense variant	-	NC_000016.10:g.74606869G>T	ExAC,gnomAD
rs781248538	p.Gln78Arg	missense variant	-	NC_000016.10:g.74606862T>C	ExAC,gnomAD
rs374123768	p.Gln80His	missense variant	-	NC_000016.10:g.74606855T>A	1000Genomes,TOPMed
rs377766887	p.Gln80Pro	missense variant	-	NC_000016.10:g.74606856T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs746542614	p.Gln81Glu	missense variant	-	NC_000016.10:g.74606854G>C	ExAC,gnomAD
rs746542614	p.Gln81Lys	missense variant	-	NC_000016.10:g.74606854G>T	ExAC,gnomAD
rs1410871895	p.Gln81Leu	missense variant	-	NC_000016.10:g.74606853T>A	TOPMed,gnomAD
rs1424906653	p.Gln81His	missense variant	-	NC_000016.10:g.74606852C>G	TOPMed,gnomAD
rs1340690931	p.Gln82Leu	missense variant	-	NC_000016.10:g.74606850T>A	TOPMed
rs777092859	p.Gln83Glu	missense variant	-	NC_000016.10:g.74606848G>C	ExAC,gnomAD
rs777092859	p.Gln83Ter	stop gained	-	NC_000016.10:g.74606848G>A	ExAC,gnomAD
rs1298610882	p.Gln83Leu	missense variant	-	NC_000016.10:g.74606847T>A	TOPMed
rs758076288	p.Pro85Arg	missense variant	-	NC_000016.10:g.74606841G>C	ExAC
rs1171275041	p.Gln86His	missense variant	-	NC_000016.10:g.74606837C>G	gnomAD
rs752289006	p.Pro87Ser	missense variant	-	NC_000016.10:g.74606836G>A	ExAC,gnomAD
rs752289006	p.Pro87Thr	missense variant	-	NC_000016.10:g.74606836G>T	ExAC,gnomAD
rs1177437652	p.Pro88Leu	missense variant	-	NC_000016.10:g.74606832G>A	TOPMed,gnomAD
rs1177437652	p.Pro88Arg	missense variant	-	NC_000016.10:g.74606832G>C	TOPMed,gnomAD
rs557131415	p.Gln89Arg	missense variant	-	NC_000016.10:g.74606829T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1486345949	p.Pro90Leu	missense variant	-	NC_000016.10:g.74606826G>A	TOPMed
rs755313574	p.Pro91Leu	missense variant	-	NC_000016.10:g.74606823G>A	ExAC,gnomAD
rs1434970401	p.Phe92Leu	missense variant	-	NC_000016.10:g.74606819G>C	TOPMed
rs1380179952	p.Pro93Ser	missense variant	-	NC_000016.10:g.74606818G>A	TOPMed
rs1380179952	p.Pro93Ala	missense variant	-	NC_000016.10:g.74606818G>C	TOPMed
rs979158504	p.Pro93Leu	missense variant	-	NC_000016.10:g.74606817G>A	TOPMed,gnomAD
rs1008502647	p.Ala94Glu	missense variant	-	NC_000016.10:g.74606814G>T	gnomAD
rs536704236	p.Gly96Val	missense variant	-	NC_000016.10:g.74606808C>A	1000Genomes,ExAC
rs1239499780	p.Pro98Ser	missense variant	-	NC_000016.10:g.74606803G>A	gnomAD
rs750527723	p.Arg100Trp	missense variant	-	NC_000016.10:g.74606797G>A	ExAC,TOPMed,gnomAD
rs750527723	p.Arg100Gly	missense variant	-	NC_000016.10:g.74606797G>C	ExAC,TOPMed,gnomAD
rs1443217250	p.Arg100Gln	missense variant	-	NC_000016.10:g.74606796C>T	gnomAD
rs762158143	p.Arg101Trp	missense variant	-	NC_000016.10:g.74606794G>A	ExAC,TOPMed,gnomAD
rs996021352	p.Gly102Glu	missense variant	-	NC_000016.10:g.74606790C>T	TOPMed
rs769755263	p.Gly103Arg	missense variant	-	NC_000016.10:g.74606788C>T	ExAC,TOPMed,gnomAD
rs571035117	p.Ala104Thr	missense variant	-	NC_000016.10:g.74606785C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs571035117	p.Ala104Ser	missense variant	-	NC_000016.10:g.74606785C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs771008915	p.Ala104Val	missense variant	-	NC_000016.10:g.74606784G>A	ExAC,gnomAD
rs777409511	p.Gly105Val	missense variant	-	NC_000016.10:g.74606781C>A	ExAC,gnomAD
rs78910720	p.Ala106Val	missense variant	-	NC_000016.10:g.74606778G>A	gnomAD
rs78910720	p.Ala106Gly	missense variant	-	NC_000016.10:g.74606778G>C	gnomAD
rs1485908350	p.Gly107Ser	missense variant	-	NC_000016.10:g.74606776C>T	gnomAD
rs778399502	p.Gly108Arg	missense variant	-	NC_000016.10:g.74606773C>G	ExAC,TOPMed,gnomAD
rs754584891	p.Gly108Glu	missense variant	-	NC_000016.10:g.74606772C>T	ExAC,gnomAD
rs780337684	p.Trp110Arg	missense variant	-	NC_000016.10:g.74606767A>G	ExAC,TOPMed,gnomAD
rs1194281893	p.Lys111Arg	missense variant	-	NC_000016.10:g.74606763T>C	TOPMed
rs756615761	p.Leu112Val	missense variant	-	NC_000016.10:g.74606761G>C	ExAC,TOPMed,gnomAD
rs146839377	p.Ala113Val	missense variant	-	NC_000016.10:g.74606757G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs868323560	p.Glu115Asp	missense variant	-	NC_000016.10:g.74606750T>G	TOPMed
NCI-TCGA novel	p.Glu116Lys	missense variant	-	NC_000016.10:g.74606749C>T	NCI-TCGA
rs142467123	p.Ser117Phe	missense variant	-	NC_000016.10:g.74606745G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751623570	p.Glu120Lys	missense variant	-	NC_000016.10:g.74606737C>T	ExAC,gnomAD
rs148785493	p.Asp121Val	missense variant	-	NC_000016.10:g.74606733T>A	ESP,ExAC,TOPMed,gnomAD
rs1159156143	p.Thr123Ile	missense variant	-	NC_000016.10:g.74606727G>A	gnomAD
COSM6145520	p.Thr123Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74606727G>C	NCI-TCGA Cosmic
rs565382408	p.Val125Met	missense variant	-	NC_000016.10:g.74606722C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs565382408	p.Val125Leu	missense variant	-	NC_000016.10:g.74606722C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys126Tyr	missense variant	-	NC_000016.10:g.74606718C>T	NCI-TCGA
rs1191349486	p.Lys128Thr	missense variant	-	NC_000016.10:g.74606712T>G	TOPMed,gnomAD
rs760724849	p.Lys128Glu	missense variant	-	NC_000016.10:g.74606713T>C	ExAC,TOPMed,gnomAD
rs773001663	p.Thr130Ser	missense variant	-	NC_000016.10:g.74606706G>C	ExAC,TOPMed,gnomAD
rs1048747326	p.Ser132Arg	missense variant	-	NC_000016.10:g.74606699G>C	TOPMed,gnomAD
rs1216565898	p.Ser132Thr	missense variant	-	NC_000016.10:g.74606700C>G	gnomAD
rs1271506254	p.Asn134Asp	missense variant	-	NC_000016.10:g.74606695T>C	gnomAD
rs773800196	p.Asn134Ser	missense variant	-	NC_000016.10:g.74606694T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn134ThrPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.74606694T>-	NCI-TCGA
rs369890741	p.Ala136Ser	missense variant	-	NC_000016.10:g.74606689C>A	ESP,ExAC,TOPMed,gnomAD
rs746432628	p.Ala136Gly	missense variant	-	NC_000016.10:g.74606688G>C	ExAC,TOPMed,gnomAD
rs746432628	p.Ala136Val	missense variant	-	NC_000016.10:g.74606688G>A	ExAC,TOPMed,gnomAD
rs757738751	p.Leu138Phe	missense variant	-	NC_000016.10:g.74606683G>A	ExAC,gnomAD
rs200972392	p.Glu139Val	missense variant	-	NC_000016.10:g.74606679T>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys140Gly	missense variant	-	NC_000016.10:g.74606677A>C	NCI-TCGA
rs1422599568	p.Asp143Gly	missense variant	-	NC_000016.10:g.74606667T>C	gnomAD
rs758761552	p.Val144Met	missense variant	-	NC_000016.10:g.74606665C>T	ExAC,gnomAD
rs752956876	p.Val144Ala	missense variant	-	NC_000016.10:g.74606664A>G	ExAC,gnomAD
rs752956876	p.Val144Ala	missense variant	-	NC_000016.10:g.74606664A>G	NCI-TCGA
rs201232267	p.Pro147Leu	missense variant	-	NC_000016.10:g.74532152G>A	ExAC,TOPMed,gnomAD
rs372372727	p.Asn149Ser	missense variant	-	NC_000016.10:g.74532146T>C	ESP,ExAC,TOPMed,gnomAD
rs772667435	p.Glu150Lys	missense variant	-	NC_000016.10:g.74532144C>T	ExAC,gnomAD
rs748259591	p.Ile151Val	missense variant	-	NC_000016.10:g.74532141T>C	ExAC,gnomAD
rs1432674717	p.Ser152Ala	missense variant	-	NC_000016.10:g.74532138A>C	gnomAD
rs778993070	p.Ser153Pro	missense variant	-	NC_000016.10:g.74532135A>G	ExAC,gnomAD
rs755158739	p.Asp154His	missense variant	-	NC_000016.10:g.74532132C>G	ExAC,gnomAD
rs2550807	p.Asp154Glu	missense variant	-	NC_000016.10:g.74532130G>T	ExAC,TOPMed,gnomAD
rs147374175	p.Asn156Ser	missense variant	-	NC_000016.10:g.74532125T>C	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Asn156Lys	missense variant	-	NC_000016.10:g.74532124A>C	NCI-TCGA
rs1417270905	p.His157Arg	missense variant	-	NC_000016.10:g.74532122T>C	TOPMed
NCI-TCGA novel	p.Asn165Ser	missense variant	-	NC_000016.10:g.74508903T>C	NCI-TCGA
rs777605205	p.Leu166Val	missense variant	-	NC_000016.10:g.74508901G>C	ExAC,TOPMed,gnomAD
rs777605205	p.Leu166Val	missense variant	-	NC_000016.10:g.74508901G>C	NCI-TCGA Cosmic
rs1159463656	p.Thr167Ser	missense variant	-	NC_000016.10:g.74508897G>C	gnomAD
rs778941649	p.Thr168Ile	missense variant	-	NC_000016.10:g.74508894G>A	ExAC,gnomAD
rs778941649	p.Thr168Lys	missense variant	-	NC_000016.10:g.74508894G>T	ExAC,gnomAD
rs373177669	p.Thr168Ala	missense variant	-	NC_000016.10:g.74508895T>C	ESP,ExAC,gnomAD
rs754824681	p.Asp169Val	missense variant	-	NC_000016.10:g.74508891T>A	ExAC,gnomAD
rs1271796244	p.Asp169Asn	missense variant	-	NC_000016.10:g.74508892C>T	gnomAD
rs752206213	p.Pro170Ser	missense variant	-	NC_000016.10:g.74508889G>A	ExAC,TOPMed,gnomAD
rs755897691	p.Pro170Leu	missense variant	-	NC_000016.10:g.74508888G>A	ExAC,gnomAD
rs752206213	p.Pro170Ala	missense variant	-	NC_000016.10:g.74508889G>C	ExAC,TOPMed,gnomAD
rs755897691	p.Pro170Leu	missense variant	-	NC_000016.10:g.74508888G>A	NCI-TCGA,NCI-TCGA Cosmic
rs916762168	p.Phe172Leu	missense variant	-	NC_000016.10:g.74508883A>G	TOPMed
rs768039358	p.Ser174Tyr	missense variant	-	NC_000016.10:g.74508876G>T	ExAC,gnomAD
rs762233302	p.Ala176Gly	missense variant	-	NC_000016.10:g.74508870G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala176Thr	missense variant	-	NC_000016.10:g.74508871C>T	NCI-TCGA
rs762233302	p.Ala176Val	missense variant	-	NC_000016.10:g.74508870G>A	ExAC,TOPMed,gnomAD
rs1417827543	p.Arg177Lys	missense variant	-	NC_000016.10:g.74508867C>T	gnomAD
rs369683746	p.Glu178Gly	missense variant	-	NC_000016.10:g.74508864T>C	ESP,ExAC,TOPMed,gnomAD
rs775709143	p.Val179Ala	missense variant	-	NC_000016.10:g.74508861A>G	ExAC,gnomAD
rs763304867	p.Val179Phe	missense variant	-	NC_000016.10:g.74508862C>A	ExAC,gnomAD
rs1175810278	p.Lys181Arg	missense variant	-	NC_000016.10:g.74508855T>C	TOPMed
rs1469462374	p.Lys181Gln	missense variant	-	NC_000016.10:g.74508856T>G	gnomAD
rs767297587	p.Ser182Phe	missense variant	-	NC_000016.10:g.74508852G>A	gnomAD
rs767297587	p.Ser182Cys	missense variant	-	NC_000016.10:g.74508852G>C	gnomAD
rs776803868	p.Ile184Val	missense variant	-	NC_000016.10:g.74508847T>C	ExAC,TOPMed,gnomAD
rs776803868	p.Ile184Leu	missense variant	-	NC_000016.10:g.74508847T>G	ExAC,TOPMed,gnomAD
rs1215048018	p.Ile184Thr	missense variant	-	NC_000016.10:g.74508846A>G	gnomAD
rs771101760	p.Thr185Pro	missense variant	-	NC_000016.10:g.74508844T>G	ExAC,TOPMed,gnomAD
rs138850127	p.Thr185Arg	missense variant	-	NC_000016.10:g.74508843G>C	ESP,TOPMed,gnomAD
rs138850127	p.Thr185Ile	missense variant	-	NC_000016.10:g.74508843G>A	ESP,TOPMed,gnomAD
rs1437151148	p.Lys188Glu	missense variant	-	NC_000016.10:g.74503743T>C	gnomAD
rs1359199338	p.Glu189Val	missense variant	-	NC_000016.10:g.74503739T>A	gnomAD
rs1214461271	p.Glu189Lys	missense variant	-	NC_000016.10:g.74503740C>T	TOPMed
NCI-TCGA novel	p.Glu189Ter	stop gained	-	NC_000016.10:g.74503740C>A	NCI-TCGA
rs1214461271	p.Glu189Lys	missense variant	-	NC_000016.10:g.74503740C>T	NCI-TCGA
NCI-TCGA novel	p.Cys190TyrPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.74503736_74503737insAT	NCI-TCGA
rs768320443	p.Ala191Ser	missense variant	-	NC_000016.10:g.74503734C>A	ExAC,TOPMed,gnomAD
rs768320443	p.Ala191Pro	missense variant	-	NC_000016.10:g.74503734C>G	ExAC,TOPMed,gnomAD
rs749296601	p.Asp192His	missense variant	-	NC_000016.10:g.74503731C>G	ExAC,gnomAD
rs867507481	p.Asp192Glu	missense variant	-	NC_000016.10:g.74503729A>C	gnomAD
rs867507481	p.Asp192Glu	missense variant	-	NC_000016.10:g.74503729A>T	gnomAD
rs749296601	p.Asp192His	missense variant	-	NC_000016.10:g.74503731C>G	NCI-TCGA,NCI-TCGA Cosmic
rs780105388	p.Pro194Leu	missense variant	-	NC_000016.10:g.74503724G>A	ExAC,TOPMed,gnomAD
rs780105388	p.Pro194Arg	missense variant	-	NC_000016.10:g.74503724G>C	ExAC,TOPMed,gnomAD
rs780788132	p.Val195Phe	missense variant	-	NC_000016.10:g.74503722C>A	ExAC,gnomAD
rs375337803	p.Tyr199Cys	missense variant	-	NC_000016.10:g.74503709T>C	ESP,ExAC,TOPMed,gnomAD
rs778253245	p.Met200Ile	missense variant	-	NC_000016.10:g.74503705C>G	ExAC,TOPMed,gnomAD
rs751161671	p.Met200Leu	missense variant	-	NC_000016.10:g.74503707T>A	ExAC,gnomAD
rs751161671	p.Met200Val	missense variant	-	NC_000016.10:g.74503707T>C	ExAC,gnomAD
rs1315269084	p.Val201Leu	missense variant	-	NC_000016.10:g.74503704C>G	gnomAD
rs765755562	p.His207Gln	missense variant	-	NC_000016.10:g.74503684G>C	ExAC,gnomAD
rs1461879679	p.Arg208Gln	missense variant	-	NC_000016.10:g.74503682C>T	TOPMed
NCI-TCGA novel	p.Arg208Ter	stop gained	-	NC_000016.10:g.74503683G>A	NCI-TCGA
rs1461879679	p.Arg208Gln	missense variant	-	NC_000016.10:g.74503682C>T	NCI-TCGA Cosmic
rs753921101	p.Asn210Lys	missense variant	-	NC_000016.10:g.74503675G>C	ExAC,gnomAD
rs1288855477	p.Thr212Ile	missense variant	-	NC_000016.10:g.74503670G>A	gnomAD
NCI-TCGA novel	p.Glu213Ter	stop gained	-	NC_000016.10:g.74503668C>A	NCI-TCGA
rs1428035277	p.His217Tyr	missense variant	-	NC_000016.10:g.74503656G>A	gnomAD
NCI-TCGA novel	p.Gln218Ter	stop gained	-	NC_000016.10:g.74503653G>A	NCI-TCGA
rs766363917	p.Thr221Ser	missense variant	-	NC_000016.10:g.74503643G>C	ExAC,TOPMed,gnomAD
rs568663961	p.Met223Leu	missense variant	-	NC_000016.10:g.74503638T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs773283993	p.Thr224Met	missense variant	-	NC_000016.10:g.74503634G>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr224Ala	missense variant	-	NC_000016.10:g.74503635T>C	NCI-TCGA
rs1404530247	p.Ala225Thr	missense variant	-	NC_000016.10:g.74503632C>T	gnomAD
NCI-TCGA novel	p.Ile226Val	missense variant	-	NC_000016.10:g.74503629T>C	NCI-TCGA
rs1233131278	p.Ile227Asn	missense variant	-	NC_000016.10:g.74503625A>T	TOPMed
rs1363511000	p.Ser229Gly	missense variant	-	NC_000016.10:g.74503620T>C	gnomAD
rs1291807404	p.Arg232His	missense variant	-	NC_000016.10:g.74503610C>T	TOPMed
rs1260949102	p.Gly236Cys	missense variant	-	NC_000016.10:g.74503599C>A	gnomAD
rs955149120	p.Asp239Gly	missense variant	-	NC_000016.10:g.74503589T>C	TOPMed
rs745730108	p.Asp240Glu	missense variant	-	NC_000016.10:g.74503585G>C	ExAC,TOPMed,gnomAD
rs1029766738	p.Asn243Ser	missense variant	-	NC_000016.10:g.74503577T>C	TOPMed
rs1209554393	p.Ile247Phe	missense variant	-	NC_000016.10:g.74503566T>A	gnomAD
rs1206640667	p.Ser252Asn	missense variant	-	NC_000016.10:g.74503550C>T	TOPMed
rs1334407154	p.Ile253Val	missense variant	-	NC_000016.10:g.74503548T>C	gnomAD
rs1219559962	p.Arg254Gln	missense variant	-	NC_000016.10:g.74503544C>T	TOPMed
rs200265758	p.Leu255Ile	missense variant	-	NC_000016.10:g.74503542G>T	1000Genomes,ExAC
NCI-TCGA novel	p.Leu255Pro	missense variant	-	NC_000016.10:g.74503541A>G	NCI-TCGA
rs1433952223	p.Asp259His	missense variant	-	NC_000016.10:g.74496644C>G	TOPMed,gnomAD
rs756592114	p.Gly264Arg	missense variant	-	NC_000016.10:g.74496629C>G	ExAC,TOPMed,gnomAD
rs1232799666	p.Glu265Lys	missense variant	-	NC_000016.10:g.74496626C>T	TOPMed
rs1210811315	p.Ser268Thr	missense variant	-	NC_000016.10:g.74496617A>T	gnomAD
rs1210811315	p.Ser268Ala	missense variant	-	NC_000016.10:g.74496617A>C	gnomAD
rs751812778	p.Cys269Phe	missense variant	-	NC_000016.10:g.74496613C>A	ExAC,gnomAD
COSM4062772	p.Leu270Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74496609C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu271Ter	stop gained	-	NC_000016.10:g.74496608C>A	NCI-TCGA
rs187061091	p.Gly273Val	missense variant	-	NC_000016.10:g.74496601C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs187061091	p.Gly273Asp	missense variant	-	NC_000016.10:g.74496601C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1304498020	p.Gly273Ser	missense variant	-	NC_000016.10:g.74496602C>T	gnomAD
rs528071772	p.Lys276Arg	missense variant	-	NC_000016.10:g.74496592T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs528071772	p.Lys276Thr	missense variant	-	NC_000016.10:g.74496592T>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM472103	p.Lys276Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74496593T>C	NCI-TCGA Cosmic
rs1312138334	p.Arg281Gly	missense variant	-	NC_000016.10:g.74496578T>C	gnomAD
rs1029158886	p.Arg281Thr	missense variant	-	NC_000016.10:g.74496577C>G	TOPMed
rs1377242577	p.Glu282Ala	missense variant	-	NC_000016.10:g.74496574T>G	gnomAD
rs1174366649	p.Glu282Asp	missense variant	-	NC_000016.10:g.74496573T>A	gnomAD
NCI-TCGA novel	p.Glu282Ter	stop gained	-	NC_000016.10:g.74496575C>A	NCI-TCGA
rs1326805878	p.Pro283His	missense variant	-	NC_000016.10:g.74496571G>T	gnomAD
rs772666561	p.Lys284Arg	missense variant	-	NC_000016.10:g.74496568T>C	ExAC,gnomAD
rs1473741646	p.Gln286Glu	missense variant	-	NC_000016.10:g.74496563G>C	gnomAD
rs771559359	p.Val287Ile	missense variant	-	NC_000016.10:g.74496560C>T	ExAC,gnomAD
rs1187807666	p.Ser288Thr	missense variant	-	NC_000016.10:g.74496557A>T	TOPMed,gnomAD
rs1187807666	p.Ser288Ala	missense variant	-	NC_000016.10:g.74496557A>C	TOPMed,gnomAD
rs1258942956	p.Leu290Val	missense variant	-	NC_000016.10:g.74496551G>C	gnomAD
rs148059780	p.Lys292Arg	missense variant	-	NC_000016.10:g.74496544T>C	ESP,ExAC,TOPMed,gnomAD
rs1329542060	p.Glu300Asp	missense variant	-	NC_000016.10:g.74496519C>G	gnomAD
rs749636164	p.Ser303Leu	missense variant	-	NC_000016.10:g.74496511G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp305Ala	missense variant	-	NC_000016.10:g.74496505T>G	NCI-TCGA
rs1357273416	p.His307Gln	missense variant	-	NC_000016.10:g.74496498G>C	gnomAD
rs1191353427	p.Arg310Trp	missense variant	-	NC_000016.10:g.74496491G>A	gnomAD
rs886425243	p.His311Arg	missense variant	-	NC_000016.10:g.74496487T>C	TOPMed
rs781181463	p.Phe314Val	missense variant	-	NC_000016.10:g.74496479A>C	ExAC,gnomAD
rs757384037	p.Arg317Gln	missense variant	-	NC_000016.10:g.74496469C>T	ExAC,TOPMed,gnomAD
rs1156992686	p.Arg317Ter	stop gained	-	NC_000016.10:g.74496470G>A	gnomAD
rs1474466443	p.Asp318Glu	missense variant	-	NC_000016.10:g.74496465A>T	gnomAD
rs1164635645	p.Asp318Gly	missense variant	-	NC_000016.10:g.74496466T>C	TOPMed,gnomAD
rs1327064167	p.Asp319Gly	missense variant	-	NC_000016.10:g.74496463T>C	TOPMed
rs1232628849	p.Glu321Gly	missense variant	-	NC_000016.10:g.74496457T>C	gnomAD
rs141204594	p.Arg322His	missense variant	-	NC_000016.10:g.74496454C>T	ESP,ExAC,gnomAD
rs371676824	p.Thr327Ile	missense variant	-	NC_000016.10:g.74494830G>A	ExAC,gnomAD
rs371676824	p.Thr327Lys	missense variant	-	NC_000016.10:g.74494830G>T	ExAC,gnomAD
rs540864412	p.Gln328Arg	missense variant	-	NC_000016.10:g.74494827T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs540864412	p.Gln328Pro	missense variant	-	NC_000016.10:g.74494827T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1453066175	p.Gln328Lys	missense variant	-	NC_000016.10:g.74494828G>T	TOPMed,gnomAD
rs146586559	p.Ala329Pro	missense variant	-	NC_000016.10:g.74494825C>G	ESP,TOPMed
rs1299811563	p.Val334Met	missense variant	-	NC_000016.10:g.74494810C>T	gnomAD
rs757128329	p.Asn340Lys	missense variant	-	NC_000016.10:g.74494790G>T	ExAC,gnomAD
rs1384606561	p.Asn340Ile	missense variant	-	NC_000016.10:g.74494791T>A	TOPMed
rs751069030	p.Phe343Tyr	missense variant	-	NC_000016.10:g.74494782A>T	ExAC,TOPMed,gnomAD
rs762568138	p.Glu345Lys	missense variant	-	NC_000016.10:g.74494777C>T	ExAC,TOPMed,gnomAD
rs1222635492	p.Ser346Thr	missense variant	-	NC_000016.10:g.74494774A>T	TOPMed
rs1207990758	p.Ser348Asn	missense variant	-	NC_000016.10:g.74494767C>T	-
rs759971478	p.Glu349Asp	missense variant	-	NC_000016.10:g.74494763T>G	ExAC,gnomAD
rs777081574	p.Lys350Asn	missense variant	-	NC_000016.10:g.74494760C>G	ExAC,gnomAD
rs1314024487	p.Cys351Tyr	missense variant	-	NC_000016.10:g.74493139C>T	gnomAD
rs372334370	p.Arg352Gln	missense variant	-	NC_000016.10:g.74493136C>T	ESP,ExAC,TOPMed,gnomAD
rs1239382133	p.Ala354Val	missense variant	-	NC_000016.10:g.74493130G>A	gnomAD
rs773827034	p.Thr356Lys	missense variant	-	NC_000016.10:g.74493124G>T	ExAC,gnomAD
rs773827034	p.Thr356Ile	missense variant	-	NC_000016.10:g.74493124G>A	ExAC,gnomAD
rs1345759794	p.Thr357Ala	missense variant	-	NC_000016.10:g.74493122T>C	TOPMed
rs1290562843	p.Arg358Cys	missense variant	-	NC_000016.10:g.74493119G>A	TOPMed,gnomAD
rs772416146	p.Lys360Arg	missense variant	-	NC_000016.10:g.74493112T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala363Val	missense variant	-	NC_000016.10:g.74493103G>A	NCI-TCGA
rs1355367850	p.Gln364Arg	missense variant	-	NC_000016.10:g.74493100T>C	TOPMed,gnomAD
rs1482334767	p.Tyr370Phe	missense variant	-	NC_000016.10:g.74493082T>A	gnomAD
rs774236674	p.Ser378Asn	missense variant	-	NC_000016.10:g.74493058C>T	ExAC,gnomAD
rs774236674	p.Ser378Thr	missense variant	-	NC_000016.10:g.74493058C>G	ExAC,gnomAD
rs768926955	p.Lys381Arg	missense variant	-	NC_000016.10:g.74493049T>C	ExAC,gnomAD
rs1455348816	p.Lys382Glu	missense variant	-	NC_000016.10:g.74493047T>C	gnomAD
rs757021821	p.Tyr383His	missense variant	-	NC_000016.10:g.74493044A>G	ExAC,gnomAD
rs777791973	p.Arg384Gln	missense variant	-	NC_000016.10:g.74493040C>T	ExAC,TOPMed,gnomAD
rs567060713	p.Arg384Trp	missense variant	-	NC_000016.10:g.74493041G>A	ExAC,gnomAD
rs752260860	p.Asn386Ser	missense variant	-	NC_000016.10:g.74493034T>C	ExAC,TOPMed,gnomAD
rs752260860	p.Asn386Ile	missense variant	-	NC_000016.10:g.74493034T>A	ExAC,TOPMed,gnomAD
rs1244736588	p.Asn389Asp	missense variant	-	NC_000016.10:g.74493026T>C	TOPMed
rs1264130152	p.Asn389Lys	missense variant	-	NC_000016.10:g.74493024G>C	TOPMed
rs754735513	p.Pro391Ala	missense variant	-	NC_000016.10:g.74493020G>C	ExAC,TOPMed,gnomAD
rs753520485	p.Pro391Leu	missense variant	-	NC_000016.10:g.74493019G>A	ExAC,gnomAD
rs761150048	p.Arg392Gln	missense variant	-	NC_000016.10:g.74493016C>T	ExAC,gnomAD
rs752528979	p.Ser393Leu	missense variant	-	NC_000016.10:g.74493013G>A	TOPMed,gnomAD
COSM2690830	p.Arg394Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74493011G>A	NCI-TCGA Cosmic
rs1311134046	p.Glu395Asp	missense variant	-	NC_000016.10:g.74493006T>G	gnomAD
rs1230551501	p.Ala396Val	missense variant	-	NC_000016.10:g.74493004G>A	gnomAD
rs971672196	p.Arg397Lys	missense variant	-	NC_000016.10:g.74493001C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg397Met	missense variant	-	NC_000016.10:g.74493001C>A	NCI-TCGA
COSM4062770	p.Leu398Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74492999G>A	NCI-TCGA Cosmic
rs762159317	p.Met403Thr	missense variant	-	NC_000016.10:g.74492983A>G	ExAC,gnomAD
rs1390370482	p.Met403Val	missense variant	-	NC_000016.10:g.74492984T>C	gnomAD
rs1460673226	p.Met403Ile	missense variant	-	NC_000016.10:g.74492982C>T	gnomAD
rs774553671	p.Leu405Met	missense variant	-	NC_000016.10:g.74492978G>T	ExAC,gnomAD
rs768602077	p.Glu406Ter	stop gained	-	NC_000016.10:g.74492975C>A	ExAC,gnomAD
rs763207393	p.Ala408Gly	missense variant	-	NC_000016.10:g.74492968G>C	ExAC,TOPMed,gnomAD
rs763207393	p.Ala408Val	missense variant	-	NC_000016.10:g.74492968G>A	ExAC,TOPMed,gnomAD
rs775655830	p.Val409Leu	missense variant	-	NC_000016.10:g.74492966C>G	ExAC,TOPMed,gnomAD
rs775655830	p.Val409Ile	missense variant	-	NC_000016.10:g.74492966C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly412Arg	missense variant	-	NC_000016.10:g.74492957C>G	NCI-TCGA
NCI-TCGA novel	p.Gly412Trp	missense variant	-	NC_000016.10:g.74492957C>A	NCI-TCGA
rs778749401	p.Arg413Ter	stop gained	-	NC_000016.10:g.74491213G>A	ExAC,gnomAD
rs369029664	p.Arg413Gln	missense variant	-	NC_000016.10:g.74491212C>T	ESP,ExAC,TOPMed,gnomAD
rs1372363846	p.Ser416Gly	missense variant	-	NC_000016.10:g.74491204T>C	gnomAD
rs1411618912	p.Glu418Lys	missense variant	-	NC_000016.10:g.74491198C>T	gnomAD
COSM4062768	p.Cys419Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74491194C>T	NCI-TCGA Cosmic
rs755893688	p.Gln420His	missense variant	-	NC_000016.10:g.74491190C>G	ExAC,gnomAD
rs1183538029	p.Gln420Arg	missense variant	-	NC_000016.10:g.74491191T>C	gnomAD
rs1417184964	p.Gly421Glu	missense variant	-	NC_000016.10:g.74491188C>T	TOPMed
rs1422632481	p.Gly421Arg	missense variant	-	NC_000016.10:g.74491189C>T	gnomAD
rs745493932	p.Met423Leu	missense variant	-	NC_000016.10:g.74491183T>G	ExAC,gnomAD
rs781657222	p.Leu424Val	missense variant	-	NC_000016.10:g.74491180G>C	ExAC,TOPMed,gnomAD
COSM1579473	p.Arg427Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.74491171G>A	NCI-TCGA Cosmic
rs757529923	p.Arg427Gln	missense variant	-	NC_000016.10:g.74491170C>T	ExAC,gnomAD
rs764599334	p.Arg428His	missense variant	-	NC_000016.10:g.74491167C>T	ExAC,TOPMed,gnomAD
rs1251581387	p.Met431Leu	missense variant	-	NC_000016.10:g.74491159T>A	TOPMed,gnomAD
rs1180515964	p.Met431Ile	missense variant	-	NC_000016.10:g.74491157C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu432Ter	stop gained	-	NC_000016.10:g.74491156C>A	NCI-TCGA
rs758836765	p.Ser435Ala	missense variant	-	NC_000016.10:g.74491147A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser435Tyr	missense variant	-	NC_000016.10:g.74491146G>T	NCI-TCGA
rs146777426	p.Ser437Arg	missense variant	-	NC_000016.10:g.74491139G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs752841978	p.Ser437Asn	missense variant	-	NC_000016.10:g.74491140C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu439Asp	missense variant	-	NC_000016.10:g.74491133C>A	NCI-TCGA
rs766586113	p.Ser443Asn	missense variant	-	NC_000016.10:g.74491122C>T	ExAC,TOPMed,gnomAD
rs140582641	p.Ser443Arg	missense variant	-	NC_000016.10:g.74491121G>T	ESP,ExAC,TOPMed,gnomAD
rs573051133	p.Arg445Gln	missense variant	-	NC_000016.10:g.74491116C>T	1000Genomes,ExAC,gnomAD
rs774135784	p.Arg445Gly	missense variant	-	NC_000016.10:g.74491117G>C	ExAC,TOPMed,gnomAD
rs774135784	p.Arg445Trp	missense variant	-	NC_000016.10:g.74491117G>A	ExAC,TOPMed,gnomAD
rs1357550852	p.Gly446Arg	missense variant	-	NC_000016.10:g.74491114C>T	TOPMed
rs749228997	p.Gly446Val	missense variant	-	NC_000016.10:g.74491113C>A	ExAC,TOPMed,gnomAD
rs749228997	p.Gly446Glu	missense variant	-	NC_000016.10:g.74491113C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu447ArgPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.74491111C>-	NCI-TCGA
rs915515269	p.Ile448Val	missense variant	-	NC_000016.10:g.74491108T>C	TOPMed
COSM6145039	p.Ile448Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74491107A>G	NCI-TCGA Cosmic
rs1313341380	p.His450Gln	missense variant	-	NC_000016.10:g.74491100G>C	TOPMed,gnomAD
rs1008089961	p.His450Tyr	missense variant	-	NC_000016.10:g.74491102G>A	TOPMed
rs1312272369	p.His451Arg	missense variant	-	NC_000016.10:g.74491098T>C	gnomAD
rs775192909	p.Ser453Pro	missense variant	-	NC_000016.10:g.74491093A>G	ExAC,gnomAD
rs1466713059	p.Gly454Arg	missense variant	-	NC_000016.10:g.74491090C>T	TOPMed,gnomAD
NCI-TCGA novel	p.His456Leu	missense variant	-	NC_000016.10:g.74491083T>A	NCI-TCGA
rs745573951	p.Arg457Gln	missense variant	-	NC_000016.10:g.74491080C>T	ExAC,gnomAD
COSM4903539	p.Arg457Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.74491081G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg457Leu	missense variant	-	NC_000016.10:g.74491080C>A	NCI-TCGA
rs780737600	p.Lys458Asn	missense variant	-	NC_000016.10:g.74491076T>G	ExAC,gnomAD
rs1473814580	p.Gly459Arg	missense variant	-	NC_000016.10:g.74491075C>G	gnomAD
rs1166469066	p.Arg460Trp	missense variant	-	NC_000016.10:g.74491072G>A	TOPMed
rs1400176060	p.Leu462Val	missense variant	-	NC_000016.10:g.74491066G>C	gnomAD
rs758961479	p.His463Arg	missense variant	-	NC_000016.10:g.74491062T>C	ExAC
rs765344269	p.Lys467Arg	missense variant	-	NC_000016.10:g.74491050T>C	ExAC,gnomAD
rs755046655	p.Val468Ile	missense variant	-	NC_000016.10:g.74491048C>T	ExAC,gnomAD
rs755046655	p.Val468Leu	missense variant	-	NC_000016.10:g.74491048C>G	ExAC,gnomAD
rs753907702	p.Val469Ile	missense variant	-	NC_000016.10:g.74491045C>T	ExAC,gnomAD
rs760881916	p.Arg470Leu	missense variant	-	NC_000016.10:g.74491041C>A	ExAC,gnomAD
rs766521785	p.Arg470Gly	missense variant	-	NC_000016.10:g.74491042G>C	ExAC,gnomAD
COSM5933446	p.Arg470Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.74491042G>A	NCI-TCGA Cosmic
rs760881916	p.Arg470Gln	missense variant	-	NC_000016.10:g.74491041C>T	ExAC,gnomAD
rs1292540457	p.Glu472Asp	missense variant	-	NC_000016.10:g.74491034C>A	gnomAD
COSM472100	p.Glu472Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74491035T>A	NCI-TCGA Cosmic
rs1242552396	p.Gly474Glu	missense variant	-	NC_000016.10:g.74491029C>T	gnomAD
rs774350675	p.Leu476Val	missense variant	-	NC_000016.10:g.74491024G>C	ExAC,gnomAD
rs774350675	p.Leu476Phe	missense variant	-	NC_000016.10:g.74491024G>A	ExAC,gnomAD
rs774350675	p.Leu476Ile	missense variant	-	NC_000016.10:g.74491024G>T	ExAC,gnomAD
rs763033713	p.Gly477Ala	missense variant	-	NC_000016.10:g.74491020C>G	ExAC,gnomAD
rs763033713	p.Gly477Glu	missense variant	-	NC_000016.10:g.74491020C>T	ExAC,gnomAD
rs1391720635	p.Met478Thr	missense variant	-	NC_000016.10:g.74491017A>G	TOPMed
rs775536561	p.Met478Ile	missense variant	-	NC_000016.10:g.74491016C>T	ExAC,gnomAD
rs769812522	p.Asn479Lys	missense variant	-	NC_000016.10:g.74491013G>T	ExAC,gnomAD
rs201424825	p.Gln482Arg	missense variant	-	NC_000016.10:g.74491005T>C	ExAC,gnomAD
rs776142455	p.Ala483Val	missense variant	-	NC_000016.10:g.74491002G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala483Glu	missense variant	-	NC_000016.10:g.74491002G>T	NCI-TCGA
rs908804029	p.Thr486Lys	missense variant	-	NC_000016.10:g.74485910G>T	gnomAD
rs908804029	p.Thr486Ile	missense variant	-	NC_000016.10:g.74485910G>A	gnomAD
rs1324733349	p.Ile488Thr	missense variant	-	NC_000016.10:g.74485904A>G	gnomAD
rs979915946	p.Gln489Glu	missense variant	-	NC_000016.10:g.74485902G>C	TOPMed
NCI-TCGA novel	p.Asp492Gly	missense variant	-	NC_000016.10:g.74485892T>C	NCI-TCGA
rs781585464	p.Gly494Ala	missense variant	-	NC_000016.10:g.74485886C>G	ExAC,gnomAD
rs1320875890	p.Ala495Glu	missense variant	-	NC_000016.10:g.74485883G>T	TOPMed
rs752607666	p.Arg498His	missense variant	-	NC_000016.10:g.74485874C>T	ExAC,gnomAD
rs765069347	p.Ile499Leu	missense variant	-	NC_000016.10:g.74485872T>G	ExAC
rs1423948368	p.Asp500Val	missense variant	-	NC_000016.10:g.74485868T>A	gnomAD
rs759441082	p.Arg501Gln	missense variant	-	NC_000016.10:g.74485865C>T	ExAC,gnomAD
COSM1208279	p.Arg501Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.74485866G>A	NCI-TCGA Cosmic
rs1478859142	p.Leu503Met	missense variant	-	NC_000016.10:g.74485860A>T	TOPMed,gnomAD
rs753311750	p.Leu503Phe	missense variant	-	NC_000016.10:g.74485858C>G	ExAC,gnomAD
rs766190424	p.Ile511Leu	missense variant	-	NC_000016.10:g.74485836T>G	ExAC,gnomAD
rs760204175	p.Gln512His	missense variant	-	NC_000016.10:g.74485831C>A	ExAC,gnomAD
rs1218674084	p.Ile518Met	missense variant	-	NC_000016.10:g.74485813T>C	gnomAD
rs1197486853	p.Ile518Thr	missense variant	-	NC_000016.10:g.74485814A>G	TOPMed
rs1468829395	p.Ile518Val	missense variant	-	NC_000016.10:g.74485815T>C	TOPMed
rs767165122	p.Ser520Tyr	missense variant	-	NC_000016.10:g.74485808G>T	ExAC,TOPMed,gnomAD
rs767165122	p.Ser520Phe	missense variant	-	NC_000016.10:g.74485808G>A	ExAC,TOPMed,gnomAD
rs761448111	p.Asp522Glu	missense variant	-	NC_000016.10:g.74485801G>T	ExAC,gnomAD
rs774634106	p.Met524Leu	missense variant	-	NC_000016.10:g.74485797T>A	ExAC,gnomAD
rs1284297975	p.Met524Lys	missense variant	-	NC_000016.10:g.74485796A>T	gnomAD
rs774634106	p.Met524Val	missense variant	-	NC_000016.10:g.74485797T>C	ExAC,gnomAD
COSM460458	p.Met524Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74483124C>T	NCI-TCGA Cosmic
rs1281903576	p.Ile525Asn	missense variant	-	NC_000016.10:g.74483122A>T	gnomAD
rs1000111950	p.Ile525Val	missense variant	-	NC_000016.10:g.74483123T>C	gnomAD
rs1000111950	p.Ile525Leu	missense variant	-	NC_000016.10:g.74483123T>G	gnomAD
rs1346064166	p.Ser527Leu	missense variant	-	NC_000016.10:g.74483116G>A	TOPMed
rs1390594809	p.His532Arg	missense variant	-	NC_000016.10:g.74483101T>C	TOPMed,gnomAD
rs1411605702	p.Lys537Asn	missense variant	-	NC_000016.10:g.74483085C>G	gnomAD
rs763398161	p.Asp541Asn	missense variant	-	NC_000016.10:g.74483075C>T	ExAC,TOPMed,gnomAD
rs763398161	p.Asp541Tyr	missense variant	-	NC_000016.10:g.74483075C>A	ExAC,TOPMed,gnomAD
COSM6145040	p.Cys542Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74483071C>G	NCI-TCGA Cosmic
COSM460459	p.Glu543Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74483069C>G	NCI-TCGA Cosmic
rs1242167418	p.His544Gln	missense variant	-	NC_000016.10:g.74483064G>C	TOPMed
rs775658494	p.His544Tyr	missense variant	-	NC_000016.10:g.74483066G>A	ExAC,TOPMed,gnomAD
rs775658494	p.His544Asp	missense variant	-	NC_000016.10:g.74483066G>C	ExAC,TOPMed,gnomAD
rs1188189376	p.Arg545His	missense variant	-	NC_000016.10:g.74483062C>T	gnomAD
COSM973632	p.Arg545Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74483063G>A	NCI-TCGA Cosmic
rs1428932503	p.Leu546Val	missense variant	-	NC_000016.10:g.74483060G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu547Ser	missense variant	-	NC_000016.10:g.74483056A>G	NCI-TCGA
rs771103385	p.Ile553Val	missense variant	-	NC_000016.10:g.74483039T>C	ExAC,gnomAD
rs1382907118	p.Ser554Phe	missense variant	-	NC_000016.10:g.74483035G>A	gnomAD
rs747020388	p.Arg555Gln	missense variant	-	NC_000016.10:g.74483032C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg555Trp	missense variant	-	NC_000016.10:g.74483033G>A	NCI-TCGA
rs1194987949	p.Lys558Gln	missense variant	-	NC_000016.10:g.74483024T>G	gnomAD
rs760826803	p.Asp560Gly	missense variant	-	NC_000016.10:g.74480389T>C	ExAC,gnomAD
rs773101623	p.Pro561Leu	missense variant	-	NC_000016.10:g.74480386G>A	ExAC,gnomAD
rs1171415503	p.Pro561Ser	missense variant	-	NC_000016.10:g.74480387G>A	TOPMed,gnomAD
rs1171415503	p.Pro561Ala	missense variant	-	NC_000016.10:g.74480387G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu563Met	missense variant	-	NC_000016.10:g.74480381G>T	NCI-TCGA
rs748301851	p.Arg565Gly	missense variant	-	NC_000016.10:g.74480375G>C	ExAC,gnomAD
rs750934371	p.Arg565Leu	missense variant	-	NC_000016.10:g.74480374C>A	ExAC,TOPMed,gnomAD
rs750934371	p.Arg565His	missense variant	-	NC_000016.10:g.74480374C>T	ExAC,TOPMed,gnomAD
rs745618212	p.Lys566Asn	missense variant	-	NC_000016.10:g.74480370C>A	ExAC,gnomAD
rs1483756631	p.Gln568Arg	missense variant	-	NC_000016.10:g.74480365T>C	gnomAD
rs138266921	p.Asp570Glu	missense variant	-	NC_000016.10:g.74480358G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp570Val	missense variant	-	NC_000016.10:g.74480359T>A	NCI-TCGA
rs975261201	p.Ser572Cys	missense variant	-	NC_000016.10:g.74480353G>C	TOPMed
rs964157062	p.Arg573Cys	missense variant	-	NC_000016.10:g.74480351G>A	TOPMed
COSM435772	p.Arg573Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74480351G>C	NCI-TCGA Cosmic
rs1223951687	p.His578Arg	missense variant	-	NC_000016.10:g.74480335T>C	gnomAD
rs762294481	p.His578Tyr	missense variant	-	NC_000016.10:g.74480336G>A	TOPMed,gnomAD
rs764943105	p.Gly579Asp	missense variant	-	NC_000016.10:g.74480332C>T	ExAC,gnomAD
rs371289738	p.Gly579Ser	missense variant	-	NC_000016.10:g.74480333C>T	ESP,ExAC,TOPMed,gnomAD
rs760002573	p.Thr583Ser	missense variant	-	NC_000016.10:g.74480320G>C	ExAC,gnomAD
rs767002320	p.Ser584Gly	missense variant	-	NC_000016.10:g.74480318T>C	ExAC,gnomAD
rs773402996	p.Phe586Leu	missense variant	-	NC_000016.10:g.74480310A>C	ExAC,gnomAD
rs761084200	p.Phe586Leu	missense variant	-	NC_000016.10:g.74480312A>G	ExAC,TOPMed,gnomAD
rs1179021401	p.Phe586Tyr	missense variant	-	NC_000016.10:g.74480311A>T	gnomAD
rs1192512317	p.Met587Val	missense variant	-	NC_000016.10:g.74480309T>C	TOPMed
rs772019911	p.Pro588Leu	missense variant	-	NC_000016.10:g.74480305G>A	ExAC,gnomAD
rs772019911	p.Pro588Arg	missense variant	-	NC_000016.10:g.74480305G>C	ExAC,gnomAD
rs1180673289	p.Gln589Arg	missense variant	-	NC_000016.10:g.74480302T>C	TOPMed,gnomAD
rs762133445	p.Gln589His	missense variant	-	NC_000016.10:g.74480301C>G	ExAC,gnomAD
rs527971006	p.Gly590Val	missense variant	-	NC_000016.10:g.74480299C>A	1000Genomes
NCI-TCGA novel	p.Ala591Val	missense variant	-	NC_000016.10:g.74480296G>A	NCI-TCGA
rs1482063180	p.Phe593Leu	missense variant	-	NC_000016.10:g.74480289G>C	gnomAD
rs768813855	p.Ser594Cys	missense variant	-	NC_000016.10:g.74480287G>C	ExAC,gnomAD
rs200317310	p.Cys595Tyr	missense variant	-	NC_000016.10:g.74480284C>T	1000Genomes,ExAC,gnomAD
rs1286330291	p.Ala600Thr	missense variant	-	NC_000016.10:g.74480270C>T	gnomAD
rs1319061473	p.Tyr601Cys	missense variant	-	NC_000016.10:g.74480266T>C	TOPMed
rs746905927	p.Tyr601His	missense variant	-	NC_000016.10:g.74480267A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr601Phe	missense variant	-	NC_000016.10:g.74480266T>A	NCI-TCGA
rs777383995	p.Thr603Ser	missense variant	-	NC_000016.10:g.74480261T>A	ExAC,gnomAD
rs147344844	p.Glu605Asp	missense variant	-	NC_000016.10:g.74480253T>A	ESP,gnomAD
rs1338956434	p.Gly607Arg	missense variant	-	NC_000016.10:g.74480249C>T	TOPMed,gnomAD
rs780504813	p.Arg612Trp	missense variant	-	NC_000016.10:g.74477527G>A	ExAC,gnomAD
rs930772656	p.Arg612Gln	missense variant	-	NC_000016.10:g.74477526C>T	gnomAD
rs930772656	p.Arg612Leu	missense variant	-	NC_000016.10:g.74477526C>A	gnomAD
rs1323439519	p.Arg615Ter	stop gained	-	NC_000016.10:g.74477518G>A	gnomAD
rs750748045	p.Arg615Gln	missense variant	-	NC_000016.10:g.74477517C>T	ExAC,gnomAD
rs767919725	p.Glu617Ala	missense variant	-	NC_000016.10:g.74477511T>G	ExAC,gnomAD
COSM704151	p.Glu617Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74477512C>T	NCI-TCGA Cosmic
rs751702966	p.Ile621Asn	missense variant	-	NC_000016.10:g.74477499A>T	ExAC,gnomAD
rs764145316	p.His623Tyr	missense variant	-	NC_000016.10:g.74477494G>A	ExAC,TOPMed,gnomAD
rs1169341148	p.Gln624Glu	missense variant	-	NC_000016.10:g.74477491G>C	gnomAD
rs369140595	p.Arg625His	missense variant	-	NC_000016.10:g.74477487C>T	ESP,ExAC,gnomAD
rs369140595	p.Arg625Leu	missense variant	-	NC_000016.10:g.74477487C>A	ESP,ExAC,gnomAD
rs1376818868	p.Arg625Cys	missense variant	-	NC_000016.10:g.74477488G>A	gnomAD
rs1312106735	p.Met627Thr	missense variant	-	NC_000016.10:g.74477481A>G	gnomAD
rs1269528435	p.Met627Val	missense variant	-	NC_000016.10:g.74477482T>C	TOPMed,gnomAD
rs1223315800	p.Asp628Gly	missense variant	-	NC_000016.10:g.74477478T>C	gnomAD
rs760401925	p.Pro633Ser	missense variant	-	NC_000016.10:g.74477464G>A	ExAC,gnomAD
COSM1302241	p.Pro633Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74477464G>C	NCI-TCGA Cosmic
rs1216587552	p.Pro633His	missense variant	-	NC_000016.10:g.74477463G>T	gnomAD
rs1448121110	p.Ala634Pro	missense variant	-	NC_000016.10:g.74477461C>G	TOPMed,gnomAD
rs1339971783	p.Gln636Arg	missense variant	-	NC_000016.10:g.74477454T>C	gnomAD
rs202080402	p.Asp637Glu	missense variant	-	NC_000016.10:g.74477450A>C	ESP,ExAC,gnomAD
rs768247471	p.Lys638Asn	missense variant	-	NC_000016.10:g.74477447C>G	ExAC,gnomAD
rs1368213578	p.Ile641Thr	missense variant	-	NC_000016.10:g.74477439A>G	gnomAD
rs1385410502	p.Asp642Gly	missense variant	-	NC_000016.10:g.74477436T>C	TOPMed
rs949724588	p.Asp642Glu	missense variant	-	NC_000016.10:g.74477435A>C	TOPMed,gnomAD
rs1416234135	p.Ser648Gly	missense variant	-	NC_000016.10:g.74477419T>C	gnomAD
rs746221225	p.Glu649Ala	missense variant	-	NC_000016.10:g.74477415T>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu652GlyPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.74477406T>-	NCI-TCGA
rs752038762	p.Gln655His	missense variant	-	NC_000016.10:g.74477396C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln655Arg	missense variant	-	NC_000016.10:g.74477397T>C	NCI-TCGA
rs1322052640	p.Glu658Asp	missense variant	-	NC_000016.10:g.74474624C>G	TOPMed
rs142760132	p.Glu658Val	missense variant	-	NC_000016.10:g.74474625T>A	ESP,ExAC,TOPMed,gnomAD
rs1312421298	p.Asp662Glu	missense variant	-	NC_000016.10:g.74474612G>T	TOPMed,gnomAD
rs1017132061	p.Asp665Asn	missense variant	-	NC_000016.10:g.74474605C>T	TOPMed,gnomAD
rs752787942	p.Asp666Glu	missense variant	-	NC_000016.10:g.74474600G>C	ExAC,TOPMed,gnomAD
rs140352716	p.Val668Leu	missense variant	-	NC_000016.10:g.74474596C>G	ESP,ExAC,TOPMed,gnomAD
rs140352716	p.Val668Met	missense variant	-	NC_000016.10:g.74474596C>T	ESP,ExAC,TOPMed,gnomAD
rs1346887416	p.Glu670Ala	missense variant	-	NC_000016.10:g.74474589T>G	gnomAD
rs138346895	p.Asp673His	missense variant	-	NC_000016.10:g.74474581C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs751339963	p.Asp673Gly	missense variant	-	NC_000016.10:g.74474580T>C	ExAC,gnomAD
rs368450618	p.Ile674Thr	missense variant	-	NC_000016.10:g.74474577A>G	ESP,ExAC,TOPMed,gnomAD
rs762941599	p.Val675Ile	missense variant	-	NC_000016.10:g.74474575C>T	ExAC,TOPMed,gnomAD
rs769325255	p.Gly676Val	missense variant	-	NC_000016.10:g.74474571C>A	ExAC,TOPMed,gnomAD
rs1485131770	p.Asn677Ser	missense variant	-	NC_000016.10:g.74474568T>C	gnomAD
rs776369045	p.Leu681Phe	missense variant	-	NC_000016.10:g.74474555T>A	ExAC,TOPMed,gnomAD
rs770513037	p.Glu682Asp	missense variant	-	NC_000016.10:g.74474552T>A	ExAC,gnomAD
rs1358612483	p.Glu682Gln	missense variant	-	NC_000016.10:g.74474554C>G	TOPMed
rs1288897573	p.Ser683Leu	missense variant	-	NC_000016.10:g.74474550G>A	gnomAD
rs1470558684	p.Gln687His	missense variant	-	NC_000016.10:g.74472403T>A	gnomAD
NCI-TCGA novel	p.Ile688Ter	frameshift	-	NC_000016.10:g.74472402T>-	NCI-TCGA
NCI-TCGA novel	p.Ala690ProPheSerTerUnk	frameshift	-	NC_000016.10:g.74472397T>-	NCI-TCGA
NCI-TCGA novel	p.Arg694Lys	missense variant	-	NC_000016.10:g.74472383C>T	NCI-TCGA
rs1374659104	p.Pro698His	missense variant	-	NC_000016.10:g.74472371G>T	TOPMed
rs144087440	p.Pro698Ala	missense variant	-	NC_000016.10:g.74472372G>C	ESP,ExAC,TOPMed,gnomAD
rs756461006	p.Gln701Arg	missense variant	-	NC_000016.10:g.74472362T>C	ExAC,gnomAD
rs746063264	p.Gln701His	missense variant	-	NC_000016.10:g.74472361C>A	ExAC,gnomAD
COSM4151409	p.Gln701Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74472363G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln701Ter	stop gained	-	NC_000016.10:g.74472363G>A	NCI-TCGA
rs1204072962	p.Asn702Asp	missense variant	-	NC_000016.10:g.74472360T>C	gnomAD
NCI-TCGA novel	p.Phe703Ser	missense variant	-	NC_000016.10:g.74472356A>G	NCI-TCGA
rs745901793	p.Val707Met	missense variant	-	NC_000016.10:g.74471283C>T	ExAC,gnomAD
rs1326251969	p.Asn710Asp	missense variant	-	NC_000016.10:g.74471274T>C	gnomAD
rs1316720757	p.Gln711His	missense variant	-	NC_000016.10:g.74471269C>G	gnomAD
NCI-TCGA novel	p.Gln711His	missense variant	-	NC_000016.10:g.74471269C>A	NCI-TCGA
NCI-TCGA novel	p.Gln711Arg	missense variant	-	NC_000016.10:g.74471270T>C	NCI-TCGA
COSM3988672	p.Ile712Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74471267A>C	NCI-TCGA Cosmic
rs1277699155	p.Gly715Arg	missense variant	-	NC_000016.10:g.74471259C>T	gnomAD
rs1386334234	p.Met718Arg	missense variant	-	NC_000016.10:g.74471249A>C	gnomAD
NCI-TCGA novel	p.Met718Ile	missense variant	-	NC_000016.10:g.74471248C>T	NCI-TCGA
rs748043155	p.Glu719Asp	missense variant	-	NC_000016.10:g.74471245C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile722Leu	missense variant	-	NC_000016.10:g.74471238T>A	NCI-TCGA
rs1216839670	p.Gln723His	missense variant	-	NC_000016.10:g.74471233C>G	gnomAD
rs1021675067	p.Gln723Lys	missense variant	-	NC_000016.10:g.74471235G>T	TOPMed
COSM1479095	p.Asn724Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74471231T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys725Gln	missense variant	-	NC_000016.10:g.74471229T>G	NCI-TCGA
rs778561029	p.Gln727Lys	missense variant	-	NC_000016.10:g.74471223G>T	ExAC,gnomAD
rs754994262	p.Lys728Asn	missense variant	-	NC_000016.10:g.74471218C>G	ExAC,TOPMed,gnomAD
rs1474940298	p.Asp729Tyr	missense variant	-	NC_000016.10:g.74471217C>A	gnomAD
rs779930431	p.Glu732Lys	missense variant	-	NC_000016.10:g.74471208C>T	ExAC,gnomAD
rs138106842	p.Ala735Val	missense variant	-	NC_000016.10:g.74471198G>A	ESP,TOPMed
rs138106842	p.Ala735Asp	missense variant	-	NC_000016.10:g.74471198G>T	ESP,TOPMed
rs749881414	p.Ile736Val	missense variant	-	NC_000016.10:g.74471196T>C	ExAC,gnomAD
rs761364103	p.Gly737Arg	missense variant	-	NC_000016.10:g.74471193C>T	ExAC
rs752016004	p.Val738Ile	missense variant	-	NC_000016.10:g.74471190C>T	ExAC,gnomAD
rs1459228189	p.Phe741Leu	missense variant	-	NC_000016.10:g.74471179G>C	TOPMed
rs1268728675	p.Phe741Tyr	missense variant	-	NC_000016.10:g.74471180A>T	gnomAD
rs1341674046	p.Gln742Arg	missense variant	-	NC_000016.10:g.74471177T>C	gnomAD
rs763593485	p.Gln742Lys	missense variant	-	NC_000016.10:g.74471178G>T	ExAC,gnomAD
rs765912729	p.Val744Leu	missense variant	-	NC_000016.10:g.74470073C>A	ExAC,TOPMed,gnomAD
rs760108754	p.Arg750Gln	missense variant	-	NC_000016.10:g.74470054C>T	ExAC,gnomAD
COSM4687108	p.Arg750Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74470055G>A	NCI-TCGA Cosmic
rs770887358	p.Tyr753Phe	missense variant	-	NC_000016.10:g.74470045T>A	ExAC,TOPMed,gnomAD
COSM4062765	p.Phe755Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74470040A>G	NCI-TCGA Cosmic
rs773331308	p.Val763Met	missense variant	-	NC_000016.10:g.74470016C>T	ExAC,gnomAD
rs773331308	p.Val763Leu	missense variant	-	NC_000016.10:g.74470016C>A	ExAC,gnomAD
rs1280025811	p.Lys765Met	missense variant	-	NC_000016.10:g.74470009T>A	gnomAD
rs1477922974	p.Pro768Arg	missense variant	-	NC_000016.10:g.74470000G>C	gnomAD
rs1190202914	p.Pro768Ser	missense variant	-	NC_000016.10:g.74470001G>A	gnomAD
rs775256675	p.Ile770Leu	missense variant	-	NC_000016.10:g.74469995T>G	ExAC,gnomAD
rs139848664	p.Lys772Asn	missense variant	-	NC_000016.10:g.74469987C>G	1000Genomes,TOPMed
rs946997149	p.Lys773Arg	missense variant	-	NC_000016.10:g.74469985T>C	TOPMed
rs200006125	p.Asp775Glu	missense variant	-	NC_000016.10:g.74469057G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs758175120	p.Val776Met	missense variant	-	NC_000016.10:g.74469056C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val777Gly	missense variant	-	NC_000016.10:g.74469052A>C	NCI-TCGA
rs1414921273	p.Ile778Phe	missense variant	-	NC_000016.10:g.74469050T>A	gnomAD
rs755322680	p.Leu780Val	missense variant	-	NC_000016.10:g.74469044G>C	ExAC,gnomAD
rs754176332	p.Thr782Met	missense variant	-	NC_000016.10:g.74469037G>A	ExAC,TOPMed,gnomAD
rs1289098724	p.Val784Ala	missense variant	-	NC_000016.10:g.74469031A>G	gnomAD
rs767559754	p.Val784Met	missense variant	-	NC_000016.10:g.74469032C>T	ExAC,TOPMed,gnomAD
rs767559754	p.Val784Leu	missense variant	-	NC_000016.10:g.74469032C>G	ExAC,TOPMed,gnomAD
rs767759663	p.Arg785His	missense variant	-	NC_000016.10:g.74469028C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg785Cys	missense variant	-	NC_000016.10:g.74469029G>A	NCI-TCGA
rs764253656	p.Asn786Ser	missense variant	-	NC_000016.10:g.74469025T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp787Tyr	missense variant	-	NC_000016.10:g.74469023C>A	NCI-TCGA
rs1212588372	p.Gln790Arg	missense variant	-	NC_000016.10:g.74469013T>C	gnomAD
COSM6079607	p.Gln790Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74469013T>A	NCI-TCGA Cosmic
rs759263460	p.Ala792Val	missense variant	-	NC_000016.10:g.74469007G>A	ExAC,gnomAD
rs770832106	p.His795Pro	missense variant	-	NC_000016.10:g.74468998T>G	ExAC,TOPMed,gnomAD
rs1301400383	p.Leu799Val	missense variant	-	NC_000016.10:g.74468987G>C	gnomAD
rs780243422	p.Lys800Asn	missense variant	-	NC_000016.10:g.74468982C>A	ExAC,TOPMed,gnomAD
rs369047663	p.Arg803Met	missense variant	-	NC_000016.10:g.74468974C>A	ESP,ExAC,TOPMed,gnomAD
rs1174941657	p.Arg803Ser	missense variant	-	NC_000016.10:g.74468973C>G	gnomAD
COSM973631	p.Gln804Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74468971T>G	NCI-TCGA Cosmic
rs1023218360	p.Arg806His	missense variant	-	NC_000016.10:g.74468965C>T	TOPMed,gnomAD
COSM5851472	p.Arg806Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74468966G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu808ArgPheSerTerUnk	frameshift	-	NC_000016.10:g.74468960C>-	NCI-TCGA
rs1377523774	p.Thr813Met	missense variant	-	NC_000016.10:g.74467847G>A	gnomAD
rs1441089068	p.Ile816Val	missense variant	-	NC_000016.10:g.74467839T>C	TOPMed,gnomAD
rs752993017	p.Asp821Tyr	missense variant	-	NC_000016.10:g.74467824C>A	ExAC,gnomAD
rs752993017	p.Asp821Asn	missense variant	-	NC_000016.10:g.74467824C>T	ExAC,gnomAD
rs145619068	p.Leu822Val	missense variant	-	NC_000016.10:g.74467821G>C	ESP,ExAC,gnomAD
rs145619068	p.Leu822Ile	missense variant	-	NC_000016.10:g.74467821G>T	ESP,ExAC,gnomAD
rs1260158329	p.Tyr823His	missense variant	-	NC_000016.10:g.74467818A>G	gnomAD
COSM973630	p.Asp829His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74467800C>G	NCI-TCGA Cosmic
rs767625905	p.Ile830Val	missense variant	-	NC_000016.10:g.74467797T>C	ExAC,TOPMed,gnomAD
rs1310333990	p.Lys831Glu	missense variant	-	NC_000016.10:g.74467794T>C	gnomAD
rs753460729	p.Phe833Leu	missense variant	-	NC_000016.10:g.74467786G>T	ExAC,gnomAD
COSM1479094	p.Phe833LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.74467785_74467786AG>-	NCI-TCGA Cosmic
rs1469630719	p.Ser835Phe	missense variant	-	NC_000016.10:g.74467781G>A	TOPMed
rs187897620	p.Ala836Thr	missense variant	-	NC_000016.10:g.74467779C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs187897620	p.Ala836Ser	missense variant	-	NC_000016.10:g.74467779C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1397066757	p.Val837Leu	missense variant	-	NC_000016.10:g.74467776C>G	TOPMed,gnomAD
rs958466451	p.Gly840Val	missense variant	-	NC_000016.10:g.74467766C>A	TOPMed
NCI-TCGA novel	p.Gly840Cys	missense variant	-	NC_000016.10:g.74467767C>A	NCI-TCGA
COSM1379751	p.Ala842Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74467761C>T	NCI-TCGA Cosmic
rs986653844	p.Gln843Lys	missense variant	-	NC_000016.10:g.74467758G>T	TOPMed,gnomAD
rs1425971901	p.Ile844Val	missense variant	-	NC_000016.10:g.74465813T>C	TOPMed
rs1364941772	p.Glu846Lys	missense variant	-	NC_000016.10:g.74465807C>T	TOPMed,gnomAD
rs1170575393	p.Glu850Lys	missense variant	-	NC_000016.10:g.74465795C>T	TOPMed
rs748323382	p.Asn851Ser	missense variant	-	NC_000016.10:g.74465791T>C	ExAC,TOPMed,gnomAD
rs368546504	p.Asn851Lys	missense variant	-	NC_000016.10:g.74465790G>C	ESP,ExAC,TOPMed,gnomAD
rs755296282	p.Lys853Gln	missense variant	-	NC_000016.10:g.74465786T>G	ExAC,gnomAD
rs143361924	p.Leu855Val	missense variant	-	NC_000016.10:g.74465780G>C	ESP,ExAC,TOPMed
rs1319225479	p.Ser856Gly	missense variant	-	NC_000016.10:g.74465777T>C	gnomAD
rs780387343	p.Ser856Asn	missense variant	-	NC_000016.10:g.74465776C>T	ExAC,gnomAD
rs375250447	p.Arg858Gly	missense variant	-	NC_000016.10:g.74465771G>C	ESP,ExAC,TOPMed,gnomAD
rs201998866	p.Arg858His	missense variant	-	NC_000016.10:g.74465770C>T	ESP,ExAC,TOPMed,gnomAD
rs201998866	p.Arg858Leu	missense variant	-	NC_000016.10:g.74465770C>A	ESP,ExAC,TOPMed,gnomAD
rs375250447	p.Arg858Cys	missense variant	-	NC_000016.10:g.74465771G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys859Arg	missense variant	-	NC_000016.10:g.74465768A>G	NCI-TCGA
rs1172575257	p.Met871Val	missense variant	-	NC_000016.10:g.74465732T>C	gnomAD
rs761487266	p.Met872Val	missense variant	-	NC_000016.10:g.74465729T>C	TOPMed
rs761487266	p.Met872Leu	missense variant	-	NC_000016.10:g.74465729T>A	TOPMed
rs996173163	p.Pro874Ala	missense variant	-	NC_000016.10:g.74465723G>C	TOPMed
rs752310258	p.Glu875Asp	missense variant	-	NC_000016.10:g.74465718C>G	ExAC,TOPMed,gnomAD
rs1201423470	p.Thr879Ile	missense variant	-	NC_000016.10:g.74465707G>A	TOPMed
rs1248644229	p.Met881Ile	missense variant	-	NC_000016.10:g.74465700C>T	gnomAD
rs1477112496	p.Met881Leu	missense variant	-	NC_000016.10:g.74465702T>G	gnomAD
rs1199807471	p.Arg882Ser	missense variant	-	NC_000016.10:g.74465697C>A	gnomAD
COSM6145042	p.Arg882Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74465698C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg882Trp	missense variant	-	NC_000016.10:g.74465699T>A	NCI-TCGA
rs1190822321	p.Gln886His	missense variant	-	NC_000016.10:g.74465685C>A	TOPMed
NCI-TCGA novel	p.Gln886Ter	stop gained	-	NC_000016.10:g.74465687G>A	NCI-TCGA
rs765956529	p.Lys889Gln	missense variant	-	NC_000016.10:g.74465678T>G	ExAC,gnomAD
rs1225730209	p.Arg890Thr	missense variant	-	NC_000016.10:g.74463478C>G	TOPMed
rs746055540	p.Pro893Leu	missense variant	-	NC_000016.10:g.74463469G>A	ExAC,TOPMed,gnomAD
rs575198253	p.Met900Val	missense variant	-	NC_000016.10:g.74463449T>C	1000Genomes,ExAC,gnomAD
rs747918199	p.Gln902Glu	missense variant	-	NC_000016.10:g.74463443G>C	ExAC,gnomAD
COSM704154	p.Leu904Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74463436A>C	NCI-TCGA Cosmic
rs1238618170	p.Asn907Thr	missense variant	-	NC_000016.10:g.74463427T>G	TOPMed,gnomAD
rs1445016668	p.Asp914Glu	missense variant	-	NC_000016.10:g.74463405A>T	TOPMed
rs750071246	p.Lys916Thr	missense variant	-	NC_000016.10:g.74463400T>G	ExAC,gnomAD
rs1229885715	p.Lys918Gln	missense variant	-	NC_000016.10:g.74463395T>G	gnomAD
rs1263719877	p.Gln919Glu	missense variant	-	NC_000016.10:g.74463392G>C	TOPMed
rs1049468169	p.Met920Val	missense variant	-	NC_000016.10:g.74463389T>C	TOPMed
NCI-TCGA novel	p.Ile921Met	missense variant	-	NC_000016.10:g.74463384T>C	NCI-TCGA
rs1269569213	p.Thr922Ser	missense variant	-	NC_000016.10:g.74463382G>C	gnomAD
rs1430713732	p.Lys923Glu	missense variant	-	NC_000016.10:g.74463380T>C	TOPMed
NCI-TCGA novel	p.Arg924His	missense variant	-	NC_000016.10:g.74463376C>T	NCI-TCGA
NCI-TCGA novel	p.Arg924Cys	missense variant	-	NC_000016.10:g.74463377G>A	NCI-TCGA
rs763542690	p.Gln925Arg	missense variant	-	NC_000016.10:g.74463373T>C	ExAC,TOPMed,gnomAD
rs763542690	p.Gln925Leu	missense variant	-	NC_000016.10:g.74463373T>A	ExAC,TOPMed,gnomAD
rs200896820	p.Gln925His	missense variant	-	NC_000016.10:g.74463372C>G	1000Genomes,ExAC,gnomAD
rs865965049	p.Thr927Ser	missense variant	-	NC_000016.10:g.74463367G>C	TOPMed
rs865965049	p.Thr927Ile	missense variant	-	NC_000016.10:g.74463367G>A	TOPMed
rs1398153133	p.Arg933His	missense variant	-	NC_000016.10:g.74462624C>T	gnomAD
rs769709762	p.Pro936Ala	missense variant	-	NC_000016.10:g.74462616G>C	ExAC,gnomAD
rs745439118	p.Pro936Arg	missense variant	-	NC_000016.10:g.74462615G>C	ExAC,gnomAD
rs368508466	p.Met937Ile	missense variant	-	NC_000016.10:g.74462611C>T	ESP,ExAC,TOPMed,gnomAD
rs145421946	p.Met937Thr	missense variant	-	NC_000016.10:g.74462612A>G	ESP,ExAC,TOPMed,gnomAD
rs1450607684	p.Lys940Arg	missense variant	-	NC_000016.10:g.74462603T>C	TOPMed
rs1299315204	p.Asp945Glu	missense variant	-	NC_000016.10:g.74462587G>C	gnomAD
rs1221101437	p.Pro947Arg	missense variant	-	NC_000016.10:g.74462582G>C	gnomAD
rs746630548	p.Phe949Leu	missense variant	-	NC_000016.10:g.74462575G>T	ExAC,gnomAD
rs113910811	p.His951Gln	missense variant	-	NC_000016.10:g.74462569G>C	ESP,ExAC,TOPMed,gnomAD
rs761056314	p.Gly952Ser	missense variant	-	NC_000016.10:g.74462568C>T	TOPMed
COSM3512159	p.Gly952Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74462567C>T	NCI-TCGA Cosmic
rs1332672616	p.Thr955Ile	missense variant	-	NC_000016.10:g.74462558G>A	gnomAD
rs758845494	p.Lys956Glu	missense variant	-	NC_000016.10:g.74462556T>C	ExAC,gnomAD
rs973020736	p.Lys958Asn	missense variant	-	NC_000016.10:g.74462548C>G	TOPMed
rs1177620380	p.Ser961Leu	missense variant	-	NC_000016.10:g.74462540G>A	gnomAD
rs753037950	p.Leu963Phe	missense variant	-	NC_000016.10:g.74462533T>G	ExAC,gnomAD
rs534347421	p.Gln966Glu	missense variant	-	NC_000016.10:g.74462526G>C	1000Genomes
rs141820227	p.Ile968Val	missense variant	-	NC_000016.10:g.74462520T>C	ESP,ExAC,TOPMed,gnomAD
rs766448818	p.Lys972Arg	missense variant	-	NC_000016.10:g.74462507T>C	ExAC
rs1254261711	p.Arg974Gly	missense variant	-	NC_000016.10:g.74462502T>C	gnomAD
rs200113628	p.Asp977Gly	missense variant	-	NC_000016.10:g.74462492T>C	ESP,ExAC,TOPMed,gnomAD
rs1476627398	p.Gln978Glu	missense variant	-	NC_000016.10:g.74462490G>C	TOPMed
rs747801657	p.Arg979His	missense variant	-	NC_000016.10:g.74462194C>T	ExAC,TOPMed,gnomAD
rs1375302958	p.Ser982Thr	missense variant	-	NC_000016.10:g.74462186A>T	gnomAD
rs1262764213	p.Asp983Asn	missense variant	-	NC_000016.10:g.74462183C>T	gnomAD
rs773831791	p.Asp983Glu	missense variant	-	NC_000016.10:g.74462181G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp983His	missense variant	-	NC_000016.10:g.74462183C>G	NCI-TCGA
rs749555587	p.Asp986Glu	missense variant	-	NC_000016.10:g.74462172G>C	ExAC,gnomAD
rs1026760684	p.Gln987Glu	missense variant	-	NC_000016.10:g.74462171G>C	TOPMed
rs1317849773	p.Ile988Phe	missense variant	-	NC_000016.10:g.74462168T>A	gnomAD
rs1027430393	p.Arg989Gly	missense variant	-	NC_000016.10:g.74462165G>C	TOPMed,gnomAD
rs147773944	p.Arg989Gln	missense variant	-	NC_000016.10:g.74462164C>T	ESP,ExAC,TOPMed,gnomAD
rs969115942	p.Ile990Val	missense variant	-	NC_000016.10:g.74462162T>C	TOPMed,gnomAD
rs1180477200	p.Ile992Thr	missense variant	-	NC_000016.10:g.74462155A>G	TOPMed
rs756611706	p.Glu994Asp	missense variant	-	NC_000016.10:g.74462148C>A	ExAC,TOPMed,gnomAD
rs781231415	p.Ala996Ser	missense variant	-	NC_000016.10:g.74462144C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp998Glu	missense variant	-	NC_000016.10:g.74462136G>T	NCI-TCGA
rs1421527712	p.Arg1000His	missense variant	-	NC_000016.10:g.74462131C>T	TOPMed
rs751838596	p.Arg1000Cys	missense variant	-	NC_000016.10:g.74462132G>A	ExAC,gnomAD
rs1171540912	p.Leu1005Phe	missense variant	-	NC_000016.10:g.74462117G>A	TOPMed
NCI-TCGA novel	p.Cys1009Phe	missense variant	-	NC_000016.10:g.74462104C>A	NCI-TCGA
rs772888029	p.Asp1011His	missense variant	-	NC_000016.10:g.74462099C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser1014Cys	missense variant	-	NC_000016.10:g.74459785G>C	NCI-TCGA
rs763867401	p.Ser1015Gly	missense variant	-	NC_000016.10:g.74459783T>C	ExAC,TOPMed,gnomAD
rs775876392	p.Glu1019Asp	missense variant	-	NC_000016.10:g.74459769T>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu1020Gln	missense variant	-	NC_000016.10:g.74459768C>G	NCI-TCGA
rs770175823	p.Ala1022Val	missense variant	-	NC_000016.10:g.74459761G>A	ExAC,gnomAD
rs371138692	p.Gln1024Arg	missense variant	-	NC_000016.10:g.74459755T>C	ESP,ExAC,gnomAD
rs777137595	p.Thr1027Ile	missense variant	-	NC_000016.10:g.74459746G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln1029Lys	missense variant	-	NC_000016.10:g.74459741G>T	NCI-TCGA
rs1223550338	p.Glu1031Gln	missense variant	-	NC_000016.10:g.74459735C>G	TOPMed
rs150531743	p.Asn1037Thr	missense variant	-	NC_000016.10:g.74459716T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150531743	p.Asn1037Ser	missense variant	-	NC_000016.10:g.74459716T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1179301380	p.Leu1039Pro	missense variant	-	NC_000016.10:g.74459710A>G	TOPMed
rs367640450	p.Lys1042Arg	missense variant	-	NC_000016.10:g.74459701T>C	ESP,ExAC,gnomAD
rs1280449240	p.Glu1044Lys	missense variant	-	NC_000016.10:g.74459696C>T	gnomAD
rs963467073	p.Glu1044Gly	missense variant	-	NC_000016.10:g.74459695T>C	TOPMed,gnomAD
rs963467073	p.Glu1044Ala	missense variant	-	NC_000016.10:g.74459695T>G	TOPMed,gnomAD
rs755981823	p.Leu1045Phe	missense variant	-	NC_000016.10:g.74459691C>A	ExAC,gnomAD
COSM973625	p.Leu1045Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74459692A>C	NCI-TCGA Cosmic
rs757131915	p.Lys1047Asn	missense variant	-	NC_000016.10:g.74459685T>A	ExAC,gnomAD
rs781255449	p.Lys1047Arg	missense variant	-	NC_000016.10:g.74459686T>C	ExAC,TOPMed,gnomAD
rs750174462	p.Lys1047Glu	missense variant	-	NC_000016.10:g.74459687T>C	ExAC,gnomAD
rs751132753	p.Lys1048Arg	missense variant	-	NC_000016.10:g.74459683T>C	ExAC,gnomAD
rs1468847274	p.Asn1052Asp	missense variant	-	NC_000016.10:g.74457985T>C	gnomAD
rs762049136	p.Met1053Ile	missense variant	-	NC_000016.10:g.74457980C>G	ExAC,gnomAD
rs762049136	p.Met1053Ile	missense variant	-	NC_000016.10:g.74457980C>T	ExAC,gnomAD
rs774557014	p.Ser1057Asn	missense variant	-	NC_000016.10:g.74457969C>T	ExAC,gnomAD
rs989128353	p.Ala1059Gly	missense variant	-	NC_000016.10:g.74457963G>C	TOPMed,gnomAD
rs1297847068	p.Ile1061Val	missense variant	-	NC_000016.10:g.74457958T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asp1064His	missense variant	-	NC_000016.10:g.74457949C>G	NCI-TCGA
rs1367251345	p.Leu1067Ile	missense variant	-	NC_000016.10:g.74457940G>T	gnomAD
rs1013545960	p.Thr1069Ile	missense variant	-	NC_000016.10:g.74457933G>A	gnomAD
rs1013545960	p.Thr1069Asn	missense variant	-	NC_000016.10:g.74457933G>T	gnomAD
rs749443244	p.Asp1074Gly	missense variant	-	NC_000016.10:g.74457918T>C	ExAC,gnomAD
rs749443244	p.Asp1074Ala	missense variant	-	NC_000016.10:g.74457918T>G	ExAC,gnomAD
rs775744242	p.Ile1075Val	missense variant	-	NC_000016.10:g.74457916T>C	ExAC,gnomAD
rs770658501	p.His1077Tyr	missense variant	-	NC_000016.10:g.74457910G>A	ExAC,gnomAD
rs746761471	p.His1078Asn	missense variant	-	NC_000016.10:g.74457907G>T	ExAC,gnomAD
rs1432226434	p.Ala1080Pro	missense variant	-	NC_000016.10:g.74457901C>G	TOPMed,gnomAD
rs1413275463	p.Ala1081Pro	missense variant	-	NC_000016.10:g.74457898C>G	TOPMed
rs895046408	p.Thr1083Asn	missense variant	-	NC_000016.10:g.74457891G>T	TOPMed,gnomAD
rs1195239156	p.Arg1086His	missense variant	-	NC_000016.10:g.74457882C>T	TOPMed,gnomAD
COSM3691170	p.Gly1087Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74457880C>T	NCI-TCGA Cosmic
rs1237374518	p.Arg1088Cys	missense variant	-	NC_000016.10:g.74457877G>A	gnomAD
rs778360585	p.Arg1088His	missense variant	-	NC_000016.10:g.74457876C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1089Ter	stop gained	-	NC_000016.10:g.74457874G>A	NCI-TCGA
rs1380355868	p.Met1090Val	missense variant	-	NC_000016.10:g.74456753T>C	TOPMed
rs1163496699	p.Leu1097Val	missense variant	-	NC_000016.10:g.74456732G>C	TOPMed
rs1389206382	p.Asp1099Tyr	missense variant	-	NC_000016.10:g.74456726C>A	TOPMed
rs752137514	p.Lys1100Arg	missense variant	-	NC_000016.10:g.74456722T>C	ExAC,gnomAD
rs764642460	p.Arg1101Trp	missense variant	-	NC_000016.10:g.74456720G>A	ExAC,gnomAD
rs756083275	p.Arg1101Gln	missense variant	-	NC_000016.10:g.74456719C>T	ExAC,TOPMed,gnomAD
rs1215648714	p.Val1102Leu	missense variant	-	NC_000016.10:g.74456717C>A	TOPMed,gnomAD
rs1215648714	p.Val1102Met	missense variant	-	NC_000016.10:g.74456717C>T	TOPMed,gnomAD
rs752818912	p.Leu1104Ile	missense variant	-	NC_000016.10:g.74456711A>T	ExAC,gnomAD
rs1203720881	p.Glu1107Lys	missense variant	-	NC_000016.10:g.74456702C>T	gnomAD
rs1487029919	p.Glu1107Asp	missense variant	-	NC_000016.10:g.74456700C>G	TOPMed,gnomAD
rs776791714	p.Lys1109Arg	missense variant	-	NC_000016.10:g.74456695T>C	ExAC,gnomAD
rs1244624471	p.Arg1111Cys	missense variant	-	NC_000016.10:g.74456690G>A	gnomAD
rs1320448003	p.Arg1111His	missense variant	-	NC_000016.10:g.74456689C>T	gnomAD
rs144493700	p.Asn1113Ser	missense variant	-	NC_000016.10:g.74456683T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144493700	p.Asn1113Ile	missense variant	-	NC_000016.10:g.74456683T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1245344736	p.Asp1114Glu	missense variant	-	NC_000016.10:g.74456679G>C	TOPMed
rs1245344736	p.Asp1114Glu	missense variant	-	NC_000016.10:g.74456679G>T	TOPMed
NCI-TCGA novel	p.Asp1114Tyr	missense variant	-	NC_000016.10:g.74456681C>A	NCI-TCGA
rs748804550	p.Met1118Leu	missense variant	-	NC_000016.10:g.74456669T>A	ExAC,gnomAD
COSM973624	p.Trp1119Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74456666A>C	NCI-TCGA Cosmic
rs1358412516	p.Ser1120Asn	missense variant	-	NC_000016.10:g.74456662C>T	TOPMed
rs9945	p.Tyr1121Ter	stop gained	-	NC_000016.10:g.74456658G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769374846	p.Ala1122Thr	missense variant	-	NC_000016.10:g.74456657C>T	ExAC,gnomAD
rs769374846	p.Ala1122Ser	missense variant	-	NC_000016.10:g.74456657C>A	ExAC,gnomAD
rs1197092447	p.Val1125Leu	missense variant	-	NC_000016.10:g.74453334C>A	gnomAD
NCI-TCGA novel	p.Pro1127GlnPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.74453327G>-	NCI-TCGA
COSM4916123	p.Ala1128Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74453324G>A	NCI-TCGA Cosmic
COSM973623	p.Phe1131Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74453314G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp1133Gly	missense variant	-	NC_000016.10:g.74453309T>C	NCI-TCGA
rs146317088	p.Met1136Val	missense variant	-	NC_000016.10:g.74453301T>C	ESP,ExAC,TOPMed,gnomAD
rs141950021	p.Val1138Ile	missense variant	-	NC_000016.10:g.74453295C>T	ESP
rs1372852503	p.Met1139Ile	missense variant	-	NC_000016.10:g.74453290C>G	gnomAD
COSM275302	p.Met1139Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74453290C>A	NCI-TCGA Cosmic
rs1303896372	p.Thr1140Ala	missense variant	-	NC_000016.10:g.74453289T>C	gnomAD
rs568296844	p.Thr1140Met	missense variant	-	NC_000016.10:g.74453288G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs568296844	p.Thr1140Lys	missense variant	-	NC_000016.10:g.74453288G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs753268599	p.Ser1143Phe	missense variant	-	NC_000016.10:g.74453279G>A	ExAC,gnomAD
rs1397341177	p.Asn1145Lys	missense variant	-	NC_000016.10:g.74453272G>C	gnomAD
rs1393254050	p.Asn1145Ser	missense variant	-	NC_000016.10:g.74453273T>C	gnomAD
rs1172161912	p.Tyr1146Cys	missense variant	-	NC_000016.10:g.74453270T>C	gnomAD
rs1424899251	p.Ile1147Val	missense variant	-	NC_000016.10:g.74453268T>C	TOPMed
rs755054201	p.Leu1148Val	missense variant	-	NC_000016.10:g.74453265G>C	ExAC,gnomAD
COSM3818542	p.Leu1148Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74453265G>T	NCI-TCGA Cosmic
rs1174727930	p.Ser1149Cys	missense variant	-	NC_000016.10:g.74453261G>C	gnomAD
rs753910872	p.Val1150Met	missense variant	-	NC_000016.10:g.74453259C>T	ExAC,gnomAD
rs372790552	p.Ile1151Met	missense variant	-	NC_000016.10:g.74453254G>C	ESP,ExAC,TOPMed,gnomAD
rs756303136	p.Ser1152Thr	missense variant	-	NC_000016.10:g.74453252C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser1152Asn	missense variant	-	NC_000016.10:g.74453252C>T	NCI-TCGA
rs751393740	p.Ile1155Thr	missense variant	-	NC_000016.10:g.74453243A>G	ExAC,gnomAD
rs1254903803	p.Ile1155Met	missense variant	-	NC_000016.10:g.74453242G>C	TOPMed,gnomAD
COSM4062761	p.Cys1156Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74453240C>A	NCI-TCGA Cosmic
rs374337926	p.Ile1157Val	missense variant	-	NC_000016.10:g.74453238T>C	ESP,ExAC,TOPMed,gnomAD
rs762610257	p.Ile1157Met	missense variant	-	NC_000016.10:g.74453236T>C	ExAC,gnomAD
rs1280777288	p.Phe1159Leu	missense variant	-	NC_000016.10:g.74453230G>T	gnomAD
rs1239232550	p.Ile1161Thr	missense variant	-	NC_000016.10:g.74453225A>G	gnomAD
COSM6145043	p.Gly1162Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74453223C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1162TrpPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.74453223_74453224insA	NCI-TCGA
rs765021736	p.Met1164Ile	missense variant	-	NC_000016.10:g.74453215C>T	ExAC,gnomAD
NCI-TCGA novel	p.Met1164Val	missense variant	-	NC_000016.10:g.74453217T>C	NCI-TCGA
rs1312354993	p.Arg1167Trp	missense variant	-	NC_000016.10:g.74453208G>A	gnomAD
rs1358770819	p.Ile1168Val	missense variant	-	NC_000016.10:g.74453205T>C	TOPMed
rs776268767	p.Arg1171Gln	missense variant	-	NC_000016.10:g.74453195C>T	ExAC,gnomAD
rs1313842398	p.Arg1174Ter	stop gained	-	NC_000016.10:g.74453187G>A	gnomAD
rs770757693	p.Arg1174Gln	missense variant	-	NC_000016.10:g.74453186C>T	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002736	Amyotrophic Lateral Sclerosis	disease	BEFREE
C0003130	Anoxia	phenotype	LHGDN
C0004114	Astrocytoma	disease	BEFREE
C0006118	Brain Neoplasms	group	BEFREE;LHGDN
C0280785	Diffuse Astrocytoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005102	signaling receptor binding	TAS
GO:0017134	fibroblast growth factor binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0010955	negative regulation of protein processing	IEA
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0032330	regulation of chondrocyte differentiation	IEA
GO:0050900	leukocyte migration	TAS
GO:0060349	bone morphogenesis	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000139	Golgi membrane	IBA
GO:0005794	Golgi apparatus	IDA
GO:0005856	cytoskeleton	IEA
GO:0005886	plasma membrane	TAS
GO:0016020	membrane	HDA
GO:0016021	integral component of membrane	IEA
GO:0030054	cell junction	IEA
GO:0031012	extracellular matrix	IEA
GO:0070062	extracellular exosome	HDA
GO:0150051	postsynaptic Golgi apparatus	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-109582	Hemostasis	TAS
R-HSA-202733	Cell surface interactions at the vascular wall	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015632	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in decreased expression of GLG1 mRNA	15329391
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of GLG1 mRNA	21346803
C496492	abrine	abrine results in decreased expression of GLG1 mRNA	31054353
C496492	abrine	abrine results in decreased expression of GLG1 protein	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of GLG1 mRNA	17562736
D000086	Acetazolamide	Acetazolamide results in increased expression of GLG1 mRNA	19274763
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of GLG1 intron	30157460
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of GLG1 mRNA	16483693
D001280	Atrazine	Atrazine results in decreased expression of GLG1 mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of GLG1 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of GLG1 mRNA	22228805
C006780	bisphenol A	bisphenol A results in increased expression of GLG1 mRNA	29275510
C006780	bisphenol A	bisphenol A affects the expression of GLG1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in decreased expression of GLG1 mRNA	30816183
C018475	butyraldehyde	butyraldehyde results in decreased expression of GLG1 mRNA	26079696
C584509	C646 compound	C646 compound results in increased expression of GLG1 mRNA	26191083
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of GLG1 protein	24527689
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of GLG1 mRNA	26472689
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of GLG1 mRNA	20883709
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of GLG1 mRNA	23650126
C100187	chloropicrin	chloropicrin results in increased expression of GLG1 mRNA	26352163
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of GLG1 mRNA	18668222
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of GLG1 gene	20938992
D003300	Copper	[Disulfiram binds to Copper] which results in increased expression of GLG1 mRNA	24690739
D016572	Cyclosporine	Cyclosporine results in increased expression of GLG1 mRNA	27989131
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of GLG1 mRNA	26924002
D004040	Dietary Carbohydrates	Dietary Carbohydrates results in decreased expression of GLG1 mRNA	17490981
C024629	dimethyl phthalate	dimethyl phthalate affects the expression of GLG1 mRNA	26924002
D004221	Disulfiram	[Disulfiram binds to Copper] which results in increased expression of GLG1 mRNA	24690739
D004317	Doxorubicin	Doxorubicin results in decreased expression of GLG1 mRNA	29803840
D013759	Dronabinol	Dronabinol results in increased expression of GLG1 mRNA	16597638
D000431	Ethanol	Ethanol results in increased expression of GLG1 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of GLG1 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of GLG1 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of GLG1 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of GLG1 mRNA	23129252
D005485	Flutamide	Flutamide results in increased expression of GLG1 mRNA	24136188
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of GLG1 gene	20938992
D019833	Genistein	Genistein results in increased methylation of GLG1 gene	28505145
D006581	Hexachlorobenzene	Hexachlorobenzene affects the expression of GLG1 mRNA	15159207
C492448	ICG 001	ICG 001 results in increased expression of GLG1 mRNA	26191083
C544151	jinfukang	jinfukang results in increased expression of GLG1 mRNA	27392435
C410337	K 7174	K 7174 results in increased expression of GLG1 mRNA	24086573
D048628	Ketolides	Ketolides analog results in increased expression of GLG1 mRNA	24967691
D019344	Lactic Acid	Lactic Acid results in decreased expression of GLG1 mRNA	30851411
C002385	linsidomine	linsidomine results in increased oxidation of GLG1 protein	28086193
D058185	Magnetite Nanoparticles	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of GLG1 mRNA	26378955
D008694	Methamphetamine	Methamphetamine results in decreased expression of GLG1 mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of GLG1 gene	20938992
C028007	nickel monoxide	nickel monoxide results in increased expression of GLG1 mRNA	19167457
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of GLG1 mRNA	23892564
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of GLG1 protein	26879310
C006253	pirinixic acid	pirinixic acid results in increased expression of GLG1 mRNA	18301758
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of GLG1 protein	23718831
C045950	propiconazole	propiconazole results in increased expression of GLG1 mRNA	21278054
D012643	Selenium	Selenium results in decreased expression of GLG1 mRNA	19244175
D012643	Selenium	Selenium results in increased expression of GLG1 mRNA	19244175
C017947	sodium arsenite	sodium arsenite results in increased expression of GLG1 mRNA	20883709
D018038	Sodium Selenite	Sodium Selenite results in increased expression of GLG1 mRNA	18175754
D004113	Succimer	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of GLG1 mRNA	26378955
D013629	Tamoxifen	Tamoxifen affects the expression of GLG1 mRNA	17555576
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of GLG1 mRNA	15336504
C004648	testosterone enanthate	testosterone enanthate affects the expression of GLG1 mRNA	17440010
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GLG1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of GLG1 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GLG1 mRNA	22298810
D019284	Thapsigargin	Thapsigargin results in increased expression of GLG1 protein	24648495
D013853	Thioacetamide	Thioacetamide results in increased expression of GLG1 mRNA	23411599
C009495	titanium dioxide	titanium dioxide results in decreased expression of GLG1 mRNA	27760801
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of GLG1 protein	30291989
D000077867	Tolcapone	Tolcapone binds to GLG1 protein	19783845
D000077288	Troglitazone	Troglitazone results in decreased expression of GLG1 mRNA	28973697
D014414	Tungsten	Tungsten results in decreased expression of GLG1 mRNA	30912803
D014635	Valproic Acid	Valproic Acid results in increased expression of GLG1 mRNA	29501571
D014635	Valproic Acid	Valproic Acid results in increased expression of GLG1 protein	29501571
D014635	Valproic Acid	Valproic Acid results in increased methylation of GLG1 gene	29501571
D014810	Vitamin E	Vitamin E results in decreased expression of GLG1 mRNA	19244175
D014810	Vitamin E	Vitamin E results in increased expression of GLG1 mRNA	19244175
D024483	Vitamin K 3	Vitamin K 3 affects the expression of GLG1 mRNA	20044591
D000077337	Vorinostat	Vorinostat results in decreased expression of GLG1 mRNA	27188386
D000077211	Zoledronic Acid	Zoledronic Acid results in decreased expression of GLG1 mRNA	20977926

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0965	Cell junction
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0325	Glycoprotein
KW-0333	Golgi apparatus
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0677	Repeat
KW-0730	Sialic acid
KW-0732	Signal
KW-0770	Synapse
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR001893	Cys-rich_GLG1_repeat
IPR017873	Cys-rich_GLG1_repeat_euk
IPR039728	GLG1

PROSITE

PROSITE ID	PROSITE Term
PS51289	GLG1_C_RICH

Pfam

Pfam ID	Pfam Term
PF00839	Cys_rich_FGFR

Gene: GLG1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction